ClinVar Genomic variation as it relates to human health
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
Variation ID: 17002 Accession: VCV000017002.101
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q12.11 13: 20189511 (GRCh38) [ NCBI UCSC ] 13: 20763650 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 23, 2014 Apr 15, 2024 Sep 17, 2018 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_004004.6:c.71G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003995.2:p.Trp24Ter nonsense NC_000013.11:g.20189511C>T NC_000013.10:g.20763650C>T NG_008358.1:g.8465G>A LRG_1350:g.8465G>A LRG_1350t1:c.71G>A LRG_1350p1:p.Trp24Ter - Protein change
- W24*
- Other names
- rs104894396
- NM_004004.5(GJB2):c.71G>A(p.Trp24Ter)
- NM_004004.5(GJB2):c.71G>A
- Canonical SPDI
- NC_000013.11:20189510:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00040 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 30x 0.00031
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00058
The Genome Aggregation Database (gnomAD), exomes 0.00058
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
556 | 617 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (17) |
criteria provided, multiple submitters, no conflicts
|
Jun 2, 2023 | RCV000018525.62 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Apr 12, 2021 | RCV000146028.15 | |
Pathogenic (1) |
reviewed by expert panel
|
Sep 17, 2018 | RCV000211778.10 | |
Pathogenic (9) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV000255370.47 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Apr 27, 2017 | RCV000411010.19 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 7, 2021 | RCV000515359.11 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 27, 2014 | RCV000678864.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 25, 2008 | RCV000844631.12 | |
Pathogenic (1) |
criteria provided, single submitter
|
- | RCV001004398.9 | |
Likely benign (1) |
criteria provided, single submitter
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Apr 27, 2017 | RCV001112641.12 | |
Likely pathogenic (1) |
no assertion criteria provided
|
- | RCV001291329.9 | |
Pathogenic (1) |
criteria provided, single submitter
|
May 4, 2022 | RCV002247354.9 | |
Pathogenic (1) |
criteria provided, single submitter
|
Oct 19, 2020 | RCV002470712.8 | |
Pathogenic (1) |
criteria provided, single submitter
|
- | RCV003388568.2 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 17, 2018)
|
reviewed by expert panel
Method: curation
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Nonsyndromic genetic hearing loss
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
ClinGen Hearing Loss Variant Curation Expert Panel
Accession: SCV000840546.4
First in ClinVar: Jun 01, 2016 Last updated: Dec 11, 2022 |
Comment:
The filtering allele frequency of the p.Trp24X variant in the GJB2 gene is 0.38% (137/ 30782) of South Asian chromosomes by the Genome Aggregation Database … (more)
The filtering allele frequency of the p.Trp24X variant in the GJB2 gene is 0.38% (137/ 30782) of South Asian chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which is a high enough frequency to be classified as likely benign based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BS1). However, the ClinGen Hearing Loss Expert Panel believes that the evidence for the pathogenicity of this variant for nonsyndromic hearing loss outweighs the high allele frequency of the variant in population databases. Therefore, the BS1 code will not contribute to the overall classification. The p.Trp24X variant in GJB2 is predicted to cause a premature stop codon in the only exon of GJB2 that leads to a truncated or absent protein in a gene in which loss-of-function is an established mechanism (PVS1). This variant has been detected in patients with hearing loss in trans with at least 4 pathogenic or suspected-pathogenic variants (PM3_VS; PMID: 15070423, 24123366, 18941476, 9139825). A knock-in mouse model demonstrates that the p.Trp24X variant leads to the phenotype (PS3; PMID:18941476). In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive nonsyndromic hearing loss based on the ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PVS1, PM3_VS, PS3, BS1. (less)
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Pathogenic
(May 09, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Deafness, autosomal recessive 1A
Affected status: no, yes
Allele origin:
germline
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000599727.1
First in ClinVar: Sep 19, 2017 Last updated: Sep 19, 2017 |
Observation 1:
Number of individuals with the variant: 4
Observation 2:
Number of individuals with the variant: 2
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Pathogenic
(Feb 25, 2008)
|
criteria provided, single submitter
Method: clinical testing
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Rare genetic deafness
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000061533.5
First in ClinVar: May 03, 2013 Last updated: Sep 01, 2019 |
Comment:
The Trp24X variant in GJB2 is a known pathogenic variant and has been reported i n many individuals affected with hearing loss (Kelsell 1997, Roux … (more)
The Trp24X variant in GJB2 is a known pathogenic variant and has been reported i n many individuals affected with hearing loss (Kelsell 1997, Roux 2004, Mani 200 9). ACMG/AMP Criteria applied: PVS1, PM3_VeryStrong. (less)
Number of individuals with the variant: 9
|
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Pathogenic
(Apr 23, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Athena Diagnostics Inc
Accession: SCV000841712.2
First in ClinVar: Oct 09, 2016 Last updated: Jan 20, 2020 |
Comment:
The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one … (more)
The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Affected status: unknown
Allele origin:
germline
|
Baylor Genetics
Accession: SCV001163370.1
First in ClinVar: Mar 01, 2020 Last updated: Mar 01, 2020 |
|
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Pathogenic
(Jan 01, 2016)
|
criteria provided, single submitter
Method: clinical testing
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Autosomal dominant nonsyndromic hearing loss 3A
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001367896.2
First in ClinVar: Jul 06, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM3,PM4,PP3,PS1,PP4.
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Pathogenic
(Apr 12, 2021)
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criteria provided, single submitter
Method: research
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
paternal
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI WGS
Accession: SCV001870364.1 First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
Comment:
ACMG codes:PVS1, PM2, PP5
Number of individuals with the variant: 1
Clinical Features:
Bilateral sensorineural hearing impairment (present) , Attention deficit hyperactivity disorder (present) , Downslanted palpebral fissures (present) , Intellectual disability (present)
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Pathogenic
(Apr 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000883943.2
First in ClinVar: Feb 17, 2019 Last updated: Jan 08, 2022 |
Comment:
The GJB2 c.71G>A; p.Trp24Ter variant (rs104894396) is a common pathogenic variant reported in association with autosomal recessive hearing loss. In a large multi-center North American … (more)
The GJB2 c.71G>A; p.Trp24Ter variant (rs104894396) is a common pathogenic variant reported in association with autosomal recessive hearing loss. In a large multi-center North American cohort it accounted for 1.41% of pathogenic variants identified in GJB2 (33 out of 2,341 variants) (Putcha 2007). This variant is also reported in ClinVar (Variation ID: 17002). This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Putcha et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul;9(7):413-26. (less)
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Pathogenic
(Oct 19, 2020)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: no
Allele origin:
germline
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV001244788.2
First in ClinVar: May 04, 2020 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease … (more)
Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. Multiple truncating variants have previously been reported pathogenic (ClinVar). (N) 0108 - This gene is known to be associated with both recessive and dominant disease (OMIM). (N) 0204 - Variant is predicted to result in a truncated protein with more than 1/3 of the protein affected (exon 2 of 2). (P) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (145 heterozygotes, 1 homozygote). (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. Multiple truncating variants have been previously reported pathogenic (ClinVar) (P) 0801 - Strong previous evidence of pathogenicity in unrelated individuals. This variant has previously been reported in multiple independent cases (ClinVar). (P) 1002 - Moderate functional evidence supporting abnormal protein function. This variant has been shown to result in stop codon readthrough, affecting cellular localisation of the protein (PMID 18941476). (P) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign (less)
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Pathogenic
(Dec 18, 2015)
|
criteria provided, single submitter
Method: clinical testing
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Autosomal dominant nonsyndromic hearing loss 3A
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000487396.2
First in ClinVar: Jan 06, 2017 Last updated: Dec 24, 2022 |
|
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Pathogenic
(Dec 08, 2016)
|
criteria provided, single submitter
Method: research
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
unknown
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: CSER-HudsonAlpha
Accession: SCV000493065.3 First in ClinVar: Dec 06, 2016 Last updated: Dec 24, 2022 |
Clinical Features:
Delayed speech and language development (present) , Global developmental delay (present) , Intellectual disability, mild (present) , Attention deficit hyperactivity disorder (present) , Hearing impairment … (more)
Delayed speech and language development (present) , Global developmental delay (present) , Intellectual disability, mild (present) , Attention deficit hyperactivity disorder (present) , Hearing impairment (present) , Memory impairment (present) (less)
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Pathogenic
(Dec 07, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Mutilating keratoderma
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Palmoplantar keratoderma-deafness syndrome Knuckle pads, deafness AND leukonychia syndrome Autosomal recessive nonsyndromic hearing loss 1A X-linked mixed hearing loss with perilymphatic gusher Autosomal dominant nonsyndromic hearing loss 3A Ichthyosis, hystrix-like, with hearing loss
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000611274.2
First in ClinVar: Nov 11, 2017 Last updated: Dec 31, 2022 |
|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
inherited
|
Suma Genomics
Accession: SCV003852608.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
|
|
Pathogenic
(May 01, 2022)
|
criteria provided, single submitter
Method: research
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
germline
|
UAEU Genomics Laboratory, United Arab Emirates University
Accession: SCV003926557.1
First in ClinVar: May 27, 2023 Last updated: May 27, 2023 |
Comment:
The stop gained NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) variant is an established pathogenic variant reviewed by Clingen hearing Loss expert panel (PMID: 30311386). This variant is one of … (more)
The stop gained NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) variant is an established pathogenic variant reviewed by Clingen hearing Loss expert panel (PMID: 30311386). This variant is one of the common pathogenic variants reported in literature ((PubMed: 9139825, PubMed: 15070423, PubMed: 16088916, PubMed: 31827275, PMID: 30303587), associated with autosomal recessive hearing loss especially in Indian population (PMID: 12833397, PMID: 33614373), with consistent clinical data supporting for pathogenicity. This variant is observed in 134/30616 (0.4377%) alleles from individuals of gnomAD South Asian background in the gnomAD database, which is higher than expected for the disorder, but the evidence for the pathogenicity of this variant for nonsyndromic hearing loss has been determined to outweigh the high allele frequency for classification. The p.Trp24Ter variant in GJB2 is predicted to cause a premature stop codon in the only exon of GJB2 that leads to a truncated or absent protein in a gene in which loss-of-function is an established mechanism . This variant has been detected in patients with hearing loss in trans with pathogenic or suspected-pathogenic variants (PMID: 15070423, 24123366, 18941476, 9139825). Functional studies using a knock-in mouse model demonstrated that the p.Trp24Ter variant leads to the phenotype (PMID:18941476). For these reasons, this variant has been classified as Pathogenic. (less)
Number of individuals with the variant: 1
Age: 0-9 years
Sex: male
|
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Pathogenic
(Jun 02, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
germline
|
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland
Accession: SCV003935290.1
First in ClinVar: Jul 01, 2023 Last updated: Jul 01, 2023 |
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Palmoplantar keratoderma-deafness syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004100578.1
First in ClinVar: Nov 04, 2023 Last updated: Nov 04, 2023 |
Clinical Features:
Global developmental delay (present) , Abnormal facial shape (present) , Anteverted nares (present) , Long philtrum (present) , Brachydactyly (present) , Seizure (present)
|
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Pathogenic
(Jan 04, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002024258.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
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Pathogenic
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000946811.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Trp24*) in the GJB2 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Trp24*) in the GJB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 203 amino acid(s) of the GJB2 protein. This variant is present in population databases (rs104894396, gnomAD 0.4%), and has an allele count higher than expected for a pathogenic variant. This premature translational stop signal has been observed in individual(s) with autosomal recessive deafness in several families and to be a common cause of the disease in many populations (PMID: 12833397, 15146474, 16088916, 24840842, 26059209). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17002). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GJB2 function (PMID: 18941476). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 08, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
Hearing impairment
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000193182.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
|
|
Pathogenic
(Jun 28, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698272.1
First in ClinVar: Sep 19, 2017 Last updated: Sep 19, 2017 |
Comment:
Variant summary: The GJB2 c.71G>A (p.Trp24X) variant results in a premature termination codon, predicted to cause a truncated or absent GJB2 protein due to nonsense … (more)
Variant summary: The GJB2 c.71G>A (p.Trp24X) variant results in a premature termination codon, predicted to cause a truncated or absent GJB2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Functional analysis showed that this results into truncated protein; the mutant protein does not undergo nonsense mediated decay (Mani_2009). Thus it causes loss of connexin and gap junction channel protein cysteine-rich domains. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.p.Trp44X, p.Gln124X, etc.). This variant was found in 70/121380 control chromosomes at a frequency of 0.0005767, which does not exceed the estimated maximal expected allele frequency of a pathogenic GJB2 variant (0.025). In literature, this variant is reported as one of the common pathogenic variants, found especially in India, with consistent clinical (cosegregation and genotypic) data supporting for pathogenicity. Multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jul 19, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000330928.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 3
Sex: mixed
|
|
Pathogenic
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000915627.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The GJB2 c.71G>A (p.Trp24Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. Across a selection of the available literature, … (more)
The GJB2 c.71G>A (p.Trp24Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. Across a selection of the available literature, the p.Trp24Ter variant has been identified in at least 46 patients with a recessive form of nonsyndromic hearing loss including in 28 in a homozygous state, 12 in a compound heterozygous state, and 6 in a heterozygous state (Kelsell et al. 1997; Maheshwari et al. 2003; RamShankar et al. 2003; Alvarez et al. 2005; Salman et al. 2015). The variant has been shown to segregate with disease in an autosomal recessive pattern in affected families (Maheshwari et al. 2003). The p.Trp24Ter variant was reported in five of 285 controls in a heterozygous state, which is consistent with carrier frequency, and is reported at a frequency of 0.00399 in the South Asian population of the Exome Aggregation Consortium. RamShankar et al. (2003) found that the p.Trp24Ter variant was the most common variant among 215 Indian probands and suggested a founder effect was responsible for the estimated carrier frequency of 0.024 in the Indian population. The variant has not been reported in association with Vohwinkel syndrome, ichthyosis hystrix-like with deafness, keratitis-ichthyosis-deafness syndrome or the dominant form of nonsyndromic hearing loss, all conditions known to be caused by variants in the GJB2 gene. Based on the disease prevalence and frequency of the variant, the p.Trp24Ter variant can be ruled out of causing disease in these conditions despite the potential impact of stop-gained variants. However, based on the collective evidence, the p.Trp24Ter variant is classified as pathogenic for the recessive form of nonsyndromic hearing loss. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(May 20, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
germline
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV000928357.1
First in ClinVar: Jul 31, 2019 Last updated: Jul 31, 2019 |
Comment:
PS3, PM1, PM4, PP2, PP3
|
|
Likely benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Ichthyosis, hystrix-like, with hearing loss
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001270323.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
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Likely benign
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Autosomal dominant nonsyndromic hearing loss 3A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001270324.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
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Pathogenic
(Nov 12, 2019)
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criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV001193811.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_004004.5(GJB2):c.71G>A(W24*) is classified as pathogenic in the context of GJB2-related DFNB1 nonsyndromic hearing loss and deafness. Sources cited for classification include the following: PMID 15070423, … (more)
NM_004004.5(GJB2):c.71G>A(W24*) is classified as pathogenic in the context of GJB2-related DFNB1 nonsyndromic hearing loss and deafness. Sources cited for classification include the following: PMID 15070423, 19371219, 15967879, 18941476 and 22695344. Classification of NM_004004.5(GJB2):c.71G>A(W24*) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Apr 27, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000322098.8
First in ClinVar: Oct 09, 2016 Last updated: Jun 26, 2021 |
Comment:
Nonsense variant predicted to result in protein truncation, as the last 203 amino acids are lost, and other loss-of-function variants have been reported downstream in … (more)
Nonsense variant predicted to result in protein truncation, as the last 203 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014) Classified as pathogenic by the ClinGen Hearing Loss Variant Curation Expert Panel (SCV000840546.3; Oza et al., 2018) This variant is associated with the following publications: (PMID: 31160754, 32847582, 31980526, 31827275, 33111345, 26689913, 18294064, 18941476, 29907799, 30394532, 30168495, 29086887, 29542069, 30094485, 15113126, 14985372, 11968091, 12746422, 16380907, 25636251, 26850479, 26778469, 26059209, 25999548, 9139825, 24840842, 24123366, 22975760, 15070423, 16088916, 12833397) (less)
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Pathogenic
(Apr 12, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hearing impairment
Affected status: yes
Allele origin:
germline
|
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
Accession: SCV001571774.2
First in ClinVar: May 01, 2021 Last updated: May 01, 2021 |
Comment:
PVS1_Strong, PS3_Moderate, PM2_Moderate, PP1_Supporting
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Pathogenic
(Jun 29, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
germline
|
Breda Genetics srl
Accession: SCV001977005.1
First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
Comment:
The variant c.71G>A (p.Trp24*) in the GJB2 gene is reported as a pathogenic for GJB2-related autosomal recessive deafness in ClinVar (Variation ID: 17002). This mutation … (more)
The variant c.71G>A (p.Trp24*) in the GJB2 gene is reported as a pathogenic for GJB2-related autosomal recessive deafness in ClinVar (Variation ID: 17002). This mutation has been described in multiple papers and is considered common in the Pakistani and Indian population (Richard et al., 2019, PMID: 30303587; Shaik et al., 2017, PMID: 29086887; Santos et al., 2005, PMID: 15617550). It creates a premature stop codon at amino acid position Trp24, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). The variant is reported with an estimated allelic frequency of 0.0006 in gnomAD exomes and 0.0000319 in gnomAD genomes, with one homozygous individual reported. (less)
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Mutilating keratoderma
Affected status: unknown
Allele origin:
germline
|
Mendelics
Accession: SCV002516479.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Pathogenic
(May 22, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002521310.1
First in ClinVar: Jun 05, 2022 Last updated: Jun 05, 2022 |
Comment:
The substitution creates a nonsense variant within 50 bp downstream of the penultimate exon or last exon. While it is expected to escape nonsense-mediated decay, … (more)
The substitution creates a nonsense variant within 50 bp downstream of the penultimate exon or last exon. While it is expected to escape nonsense-mediated decay, the truncated region is considered critical. Functional assays showed that the variant had strong level of impact on gene/protein function (PMID: 18941476).This variant has been reported as pathogenic multiple times (ClinVar ID: VCV000017002,PMID:9139825, 3billion database) and observed to be in trans with another pathogenic variant in this gene (PMID: 15070423, 18941476, 24123366, 9139825). It has been reported with an extremely low frequency in the gnomAD v2.1.1 (https://gnomad.broadinstitute.org/) dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Hearing impairment (present)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Lifecell International Pvt. Ltd
Accession: SCV003922060.1
First in ClinVar: May 13, 2023 Last updated: May 13, 2023 |
Comment:
A Homozygote Nonsense variant c.71G>A in Exon 2 of the GJB2 gene that results in the amino acid substitution p.Trp24* was identified. The observed variant … (more)
A Homozygote Nonsense variant c.71G>A in Exon 2 of the GJB2 gene that results in the amino acid substitution p.Trp24* was identified. The observed variant has a minor allele frequency of 0.00058 in gnomAD exomes and 0.00003 in genomes. The severity of the impact of this variant on the protein is high, based on the effect of the protein and REVEL score. Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. ClinVar has also classified this variant as Pathogenic [Variation ID: 17002]. The observed variation has been previously reported in patients affected with Deafness (Kecskeméti, Nóra et al., 2018). For these reasons, this variant has been classified as Pathogenic. (less)
Ethnicity/Population group: Asian
Geographic origin: India
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Pathogenic
(Nov 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001245654.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Comment:
GJB2: PM3:Very Strong, PVS1:Strong, PM2:Supporting, PS3:Supporting
Number of individuals with the variant: 8
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Pathogenic
(Jun 23, 2014)
|
no assertion criteria provided
Method: research
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Deafness, autosomal recessive 1A
Affected status: yes
Allele origin:
germline
|
Division of Human Genetics, Children's Hospital of Philadelphia
Study: CSER-PediSeq
Accession: SCV000238404.1 First in ClinVar: Jul 05, 2015 Last updated: Jul 05, 2015 |
Comment:
The variant (c. 71G>A, p. W24*) has been previously associated with autosomal recessive hearing loss (Kelsell et al. 1997, PMID: 9139825; Maheshwari et al. 2003, … (more)
The variant (c. 71G>A, p. W24*) has been previously associated with autosomal recessive hearing loss (Kelsell et al. 1997, PMID: 9139825; Maheshwari et al. 2003, PMID: 12833397; Minarik et al. 2003, PMID: 15113126; Roux et al. 2004, PMID: 15070423; Toth et al. 2004, PMID: 15146474; Alvarez et al. 2005, PMID: 16088916; Bouwer et al. 2007, PMID: 18294064). This variant has been described as the most common GJB2 variant in individuals of Indian descent (2.4% carrier frequency) and Roma descent (4-5% carrier frequency) (Bouwer et al. 2007, PMID: 18294064). This variant is a nonsense variant predicted to create a premature stop codon. Functional analysis suggests that this variant affects the gap junction activity (Mani et al. 2009, PMID: 18941476). Taken together this variant is considered a pathogenic variant. (less)
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Pathogenic
(Sep 01, 2005)
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no assertion criteria provided
Method: literature only
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DEAFNESS, AUTOSOMAL RECESSIVE 1A
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000038807.4
First in ClinVar: Apr 04, 2013 Last updated: Aug 22, 2016 |
Comment on evidence:
In 2 consanguineous Pakistani families with nonsyndromic profound deafness (DFNB1A; 220290), Kelsell et al. (1997) found evidence for linkage to 13q11-q12 and showed that 2 … (more)
In 2 consanguineous Pakistani families with nonsyndromic profound deafness (DFNB1A; 220290), Kelsell et al. (1997) found evidence for linkage to 13q11-q12 and showed that 2 affected individuals from each pedigree were homozygous for a G-to-A transition in the GJB2 gene, resulting in a trp24-to-ter (W24X) substitution. Haplotype comparisons indicated that these 2 identical mutations arose independently. Maheshwari et al. (2003) found that involvement of the W24X mutation in autosomal recessive nonsyndromic hearing loss was 13.3% in a study population of 45 Indian families. Moreover, the W24X mutation contributed in all 6 families, either in homozygous or heterozygous state, which suggested it to be a common GJB2 allele in India. Alvarez et al. (2005) screened the GJB2 gene in 34 Spanish Romani/Gypsy families with autosomal recessive nonsyndromic hearing loss and found mutations in 50%. The predominant allele was W24X, accounting for 79% of DFNB1 alleles. Haplotype analysis suggested that a founder effect is responsible for the high prevalence of this mutation among Spanish gypsies. A carrier rate of 4% (3 of 76) was found among Andalusian gypsies. (less)
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Pathogenic
(May 15, 2018)
|
no assertion criteria provided
Method: research
|
Autosomal recessive nonsyndromic hearing loss 1A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
inherited
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Accession: SCV000777827.1
First in ClinVar: Nov 25, 2018 Last updated: Nov 25, 2018 |
Clinical Features:
Hearing impairment (present) , Heterochromia iridis (present) , Telecanthus (present) , Brachydactyly (present) , Clinodactyly (present) , Synophrys (present)
Sex: female
|
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Pathogenic
(Oct 27, 2014)
|
no assertion criteria provided
Method: clinical testing
|
Hearing loss
Affected status: yes
Allele origin:
germline
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000805057.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
|
|
Likely pathogenic
(-)
|
no assertion criteria provided
Method: research
|
Hearing impairment
Affected status: yes
Allele origin:
inherited
|
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001439098.1
First in ClinVar: Oct 25, 2020 Last updated: Oct 25, 2020 |
|
|
Likely pathogenic
(-)
|
no assertion criteria provided
Method: research
|
non-syndromic autosomal recessive hearing loss
Affected status: yes
Allele origin:
inherited
|
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479803.1
First in ClinVar: Feb 20, 2021 Last updated: Feb 20, 2021 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952327.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001971394.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Pathogenic
(Nov 22, 2018)
|
no assertion criteria provided
Method: research
|
Hearing impairment
Affected status: yes
Allele origin:
germline
|
Center for Statistical Genetics, Columbia University
Accession: SCV000853304.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Autosomal recessive deafness type 1A
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001455332.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment. | Hegde S | Intractable & rare diseases research | 2021 | PMID: 33614373 |
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study. | Downie L | European journal of human genetics : EJHG | 2020 | PMID: 31827275 |
Gap Junction Protein Beta 2 Gene Variants and Non-Syndromic Hearing Impairment among Couples Referred For Prenatal Diagnosis in the Northeast of Iran. | Vojdani S | Iranian journal of otorhinolaryngology | 2019 | PMID: 30989077 |
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. | Schrauwen I | European journal of human genetics : EJHG | 2019 | PMID: 30872814 |
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. | Richard EM | Human mutation | 2019 | PMID: 30303587 |
Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort. | Kecskeméti N | European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | 2018 | PMID: 30094485 |
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India. | Amritkumar P | BMC medical genetics | 2018 | PMID: 29921236 |
Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. | Adhikary B | Gene | 2015 | PMID: 26188157 |
Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan. | Salman M | European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | 2015 | PMID: 25636251 |
High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications. | Pavithra A | Journal of genetics | 2014 | PMID: 24840842 |
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. | Bonyadi MJ | International journal of pediatric otorhinolaryngology | 2014 | PMID: 24529908 |
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. | Rodriguez-Flores JL | Human mutation | 2014 | PMID: 24123366 |
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. | Matos TD | International journal of audiology | 2013 | PMID: 23668481 |
Contribution of GJB2 mutations to hearing loss in the Hazara Division of Pakistan. | Bukhari I | Biochemical genetics | 2013 | PMID: 23504403 |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. | Bazazzadegan N | International journal of pediatric otorhinolaryngology | 2012 | PMID: 22695344 |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. | Zainal SA | International journal of pediatric otorhinolaryngology | 2012 | PMID: 22613756 |
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. | Cordeiro-Silva Mde F | Molecular biology reports | 2011 | PMID: 20563649 |
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia. | Al-Qahtani MH | Genetic testing and molecular biomarkers | 2010 | PMID: 19929407 |
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment. | Padma G | Journal of genetics | 2009 | PMID: 20086291 |
GJB2 mutations in patients with nonsyndromic hearing loss from Croatia. | Sansović I | Genetic testing and molecular biomarkers | 2009 | PMID: 19814620 |
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. | Bonyadi M | Genetic testing and molecular biomarkers | 2009 | PMID: 19715472 |
Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment. | Bhalla S | Biochemical and biophysical research communications | 2009 | PMID: 19465004 |
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. | Primignani P | Genetic testing and molecular biomarkers | 2009 | PMID: 19371219 |
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. | Joseph AY | International journal of pediatric otorhinolaryngology | 2009 | PMID: 19157576 |
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. | Mani RS | European journal of human genetics : EJHG | 2009 | PMID: 18941476 |
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss. | Khandelwal G | The Journal of laryngology and otology | 2009 | PMID: 18570691 |
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. | Bajaj Y | Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery | 2008 | PMID: 18983339 |
GJB2 mutations in Baluchi population. | Naghavi A | Journal of genetics | 2008 | PMID: 18776652 |
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. | Bouwer S | Genetic testing | 2007 | PMID: 18294064 |
Temporal bone imaging in GJB2 deafness. | Propst EJ | The Laryngoscope | 2006 | PMID: 17146393 |
Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. | Propst EJ | International journal of pediatric otorhinolaryngology | 2006 | PMID: 16125251 |
GJB2 mutations and degree of hearing loss: a multicenter study. | Snoeckx RL | American journal of human genetics | 2005 | PMID: 16380907 |
Prevalence of the 35delG mutation in the GJB2 gene of patients with nonsyndromic hearing loss from Croatia. | Sansović I | Genetic testing | 2005 | PMID: 16379542 |
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. | Alvarez A | American journal of medical genetics. Part A | 2005 | PMID: 16088916 |
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. | Marlin S | Archives of otolaryngology--head & neck surgery | 2005 | PMID: 15967879 |
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. | Kalay E | Hearing research | 2005 | PMID: 15855033 |
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. | Santos RL | Clinical genetics | 2005 | PMID: 15617550 |
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals. | Wattanasirichaigoon D | Clinical genetics | 2004 | PMID: 15479191 |
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary. | Tóth T | Human mutation | 2004 | PMID: 15146474 |
Molecular epidemiology of DFNB1 deafness in France. | Roux AF | BMC medical genetics | 2004 | PMID: 15070423 |
A genotype-phenotype correlation for GJB2 (connexin 26) deafness. | Cryns K | Journal of medical genetics | 2004 | PMID: 14985372 |
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). | Minárik G | General physiology and biophysics | 2003 | PMID: 15113126 |
Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. | Maheshwari M | American journal of medical genetics. Part A | 2003 | PMID: 12833397 |
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. | Uyguner O | Clinical genetics | 2003 | PMID: 12791041 |
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. | RamShankar M | Journal of medical genetics | 2003 | PMID: 12746422 |
Prevalence of GJB2 mutations in prelingual deafness in the Greek population. | Pampanos A | International journal of pediatric otorhinolaryngology | 2002 | PMID: 12176179 |
GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. | Najmabadi H | Human mutation | 2002 | PMID: 11968091 |
GJB2 (connexin 26) mutations and childhood deafness in Thailand. | Kudo T | Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology | 2001 | PMID: 11698809 |
High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. | Sobe T | American journal of medical genetics | 1999 | PMID: 10508996 |
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. | Kelsell DP | Nature | 1997 | PMID: 9139825 |
Metal substitutions incarbonic anhydrase: a halide ion probe study. | Smith RJ | Biochemical and biophysical research communications | 1975 | PMID: 3 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GJB2 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/b207d225-ce97-42b5-b04a-d9d420ada5eb | - | - | - | - |
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Text-mined citations for rs104894396 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.