ClinVar Genomic variation as it relates to human health
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
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
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NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
Variation ID: 21387 Accession: VCV000021387.38
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q12.11 13: 20189547 (GRCh38) [ NCBI UCSC ] 13: 20763686 (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 Dec 3, 2013 Feb 14, 2024 Dec 14, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004004.6:c.35G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003995.2:p.Gly12Val missense NC_000013.11:g.20189547C>A NC_000013.10:g.20763686C>A NG_008358.1:g.8429G>T LRG_1350:g.8429G>T LRG_1350t1:c.35G>T LRG_1350p1:p.Gly12Val - Protein change
- G12V
- Other names
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- Canonical SPDI
- NC_000013.11:20189546:C:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- loss_of_function_variant Sequence Ontology [SO:0002054]
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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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00006
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
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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 |
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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/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jan 5, 2022 | RCV000020570.23 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 8, 2013 | RCV000146020.13 | |
Likely pathogenic (1) |
criteria provided, single submitter
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May 25, 2012 | RCV000211720.12 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Sep 9, 2016 | RCV000412324.12 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Dec 14, 2023 | RCV000711351.32 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 21, 2020 | RCV001257034.9 | |
not provided (1) |
no classification provided
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- | RCV002286405.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 19, 2022 | RCV002504816.8 |
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
(Dec 15, 2017)
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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: SCV000841707.1
First in ClinVar: Oct 20, 2018 Last updated: Oct 20, 2018 |
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Likely pathogenic
(May 25, 2012)
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criteria provided, single submitter
Method: clinical testing
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Rare genetic deafness
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000061504.5
First in ClinVar: May 03, 2013 Last updated: Jun 01, 2016 |
Comment:
The Gly12Val variant in GJB2 has been reported in 4 individuals with hearing los s (Kenna 2001, D'Andrea P 2002, Kenna 2010, Rabionet 2000, Snoeckx … (more)
The Gly12Val variant in GJB2 has been reported in 4 individuals with hearing los s (Kenna 2001, D'Andrea P 2002, Kenna 2010, Rabionet 2000, Snoeckx 2005). At lea st two of these individuals were compound heterozygous. In addition, functional studies suggest that the Gly12Val variant may impact protein function (D'Andrea P 2002). In summary, this data suggests that this variant is likely pathogenic. (less)
Number of individuals with the variant: 2
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Pathogenic
(Mar 11, 2020)
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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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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603825.3
First in ClinVar: Sep 30, 2017 Last updated: Jan 26, 2021 |
Comment:
The GJB2 c.35G>T; p.Gly12Val variant (rs1801002) is a frequently reported pathogenic variant in Hispanic populations (see Purnick 2000, Putcha 2007, Rabionet 2000, Wu 2002). It … (more)
The GJB2 c.35G>T; p.Gly12Val variant (rs1801002) is a frequently reported pathogenic variant in Hispanic populations (see Purnick 2000, Putcha 2007, Rabionet 2000, Wu 2002). It has been found in a compound heterozygous state with the c.35delG variant and functional studies indicate the p.Gly12Val variant alters GJB2 protein function (D'Andrea 2012). This variant is reported in ClinVar (Variation ID: 21387) and is found in the general population with an overall allele frequency of 0.009% (21/244174 alleles) in the Genome Aggregation Database. Based on available information, we consider this variant to be pathogenic. REFERENCES D'Andrea P et al. Hearing loss: frequency and functional studies of the most common connexin26 alleles. Biochem Biophys Res Commun. 2002 Aug 23;296(3):685-91. Purnick PE et al. Structure of the amino terminus of a gap junction protein. Arch Biochem Biophys. 2000 Sep 15;381(2):181-90. Putcha GV 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. Rabionet R et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet. 2000 Jan;106(1):40-4. Wu BL et al. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002 Jul-Aug;4(4):279-88. (less)
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Pathogenic
(Jan 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: yes
Allele origin:
germline
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DASA
Accession: SCV002061257.1
First in ClinVar: Jan 22, 2022 Last updated: Jan 22, 2022 |
Comment:
The c.35G>T;p.(Gly12Val) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 21387; PMID: 20301449; 24158611; 19371219; … (more)
The c.35G>T;p.(Gly12Val) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 21387; PMID: 20301449; 24158611; 19371219; 10982180; 25288386; 17666888) - PS4. Well-established in vitro or in vivo functional studies support a damaging effect on the gene or gene product (PMID: 12176036, 11032405, 25625422) - PS3. The variant is present at low allele frequencies population databases (rs1801002– gnomAD 0.0002662%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is pathogenic. (less)
Number of individuals with the variant: 1
Sex: male
Geographic origin: Brazil
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Likely pathogenic
(Sep 09, 2016)
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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:
unknown
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Counsyl
Accession: SCV000487480.2
First in ClinVar: Jan 06, 2017 Last updated: Dec 24, 2022 |
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Likely pathogenic
(Sep 09, 2016)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000487479.2
First in ClinVar: May 29, 2016 Last updated: Dec 24, 2022 |
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Pathogenic
(Jan 19, 2022)
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criteria provided, single submitter
Method: clinical testing
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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
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002810069.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Aug 25, 2021)
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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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Revvity Omics, Revvity
Accession: SCV002024264.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Dec 14, 2023)
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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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Invitae
Accession: SCV001237132.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 12 of the GJB2 protein (p.Gly12Val). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 12 of the GJB2 protein (p.Gly12Val). This variant is present in population databases (rs1801002, gnomAD 0.06%). This missense change has been observed in individuals with autosomal recessive non-syndromic deafness (PMID: 10982180, 19371219, 24158611, 25288386). ClinVar contains an entry for this variant (Variation ID: 21387). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GJB2 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects GJB2 function (PMID: 11032405, 12176036, 25625422). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 08, 2013)
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criteria provided, single submitter
Method: clinical testing
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Hearing impairment
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000193172.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
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Pathogenic
(Jun 03, 2016)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698251.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Comment:
Variant summary: The GJB2 c.35G>T (p.Gly12Val) variant involves the alteration of a conserved nucleotide. Gly12 lies in an intracellular domain 1 (IC1) and is a … (more)
Variant summary: The GJB2 c.35G>T (p.Gly12Val) variant involves the alteration of a conserved nucleotide. Gly12 lies in an intracellular domain 1 (IC1) and is a known hot spot codon for recurrent disease-causing mutations. Multiple disease-causing variants are found on this codon: c.35delG (the most common DV), c.35dupG, G12R, G12D, and G12C. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 6/119884 control chromosomes at a frequency of 0.00005, which does not exceed the estimated maximal expected allele frequency of a pathogenic GJB2 variant (0.025). This variant has been reported in several nonsyndromic hearing loss patients in the literature in either homozygous or compound homozygous state with other pathogenic variants which is consistent with pathogenic role in recessive module. In addition, according to an in vitro study (DAndrea_2002), Gly12Val substitution causes complete intracellular retention of the connexin and accumulates in large perinuclear vesicles. This dysfunction is accompanied by a significant decrease in its expression, suggesting that G12 is required for the maturation of connexin. Multiple laboratories via ClinVar also classify the variant as pathogenic/likely pathogenic. Considering all evidences, the variant has been classified as pathogenic. (less)
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Pathogenic
(Nov 05, 2013)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000227310.5
First in ClinVar: Jun 28, 2015 Last updated: Jul 30, 2019 |
Number of individuals with the variant: 2
Sex: mixed
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Pathogenic
(Aug 21, 2020)
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criteria provided, single submitter
Method: clinical testing
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Nonsyndromic hearing loss and deafness
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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INGEBI, INGEBI / CONICET
Accession: SCV001433539.1
First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020 |
Comment:
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of c.35G>T, p.Gly12Val variant is 0,038% (20/34584) of Latino alleles … (more)
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of c.35G>T, p.Gly12Val variant is 0,038% (20/34584) of Latino alleles and 0,009% in all populations from gnomAD v2.1.1 database meeting PM2_Supporting criteria. This variant has been found in trans with several pathogenic variants in at least 10 patients with non-syndromic hearing loss among different populations applying to PM3_VerySrong criteria (PMID: 10982180, 11556849, 12172394, 12666888, 19371219, 20233142, 26043044, 26409293, 24158611). Computational analysis predicted the p.Gly12Val change to be damaging to the protein (REVEL=0.95; PP3). Functional studies in HeLa demonstrated that p.Gly12Val mutant was not able to form functional channels since there was a significantly reduce of dye (LuciferYellow) transfer meeting PS3_Moderate rule (PMID:12176036). Therefore, the c.35G>T variant meets criteria to be classified as pathogenic for autosomal recessive non-syndromic hearing loss (PM2_Supporting, PM3_VeryStrong, PP3 and PS3_Moderate). (less)
Number of individuals with the variant: 2
Clinical Features:
Congenital profound bilateral hearing loss (present)
Family history: no
Sex: mixed
Ethnicity/Population group: Caucasian
Geographic origin: Argentina
Tissue: blood
Secondary finding: no
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Pathogenic
(Sep 26, 2019)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive nonsyndromic hearing loss 1A
(Autosomal recessive inheritance)
Affected status: no
Allele origin:
germline
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New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV001480319.1 First in ClinVar: Feb 20, 2021 Last updated: Feb 20, 2021 |
Clinical Features:
Intellectual disability (present) , Seizure (present) , Autism (present) , Cerebral visual impairment (present)
Secondary finding: no
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Pathogenic
(Mar 19, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001785322.1
First in ClinVar: Aug 14, 2021 Last updated: Aug 14, 2021 |
Comment:
Common pathogenic variant in different population groups, predominantly reported in trans with the pathogenic c.35delG variant (Snoeckx et al., 2005); Published functional studies demonstrate this … (more)
Common pathogenic variant in different population groups, predominantly reported in trans with the pathogenic c.35delG variant (Snoeckx et al., 2005); Published functional studies demonstrate this variant causes an intracellular trafficking defect with loss of intercellular transfer and transjunctional conductance (Garcia et al., 2005); Highly conserved residue in the intracellular amino-terminal domain, and variant is predicted to alter the flexibility of this region (Purnick et al., 2000); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33096615, 30275481, 31160754, 16380907, 24158611, 25288386, 26043044, 26444186, 10982180, 11439000, 15365987, 19371219, 19887791, 19929407, 20083784, 20233142, 20668687, 21777984, 21962949, 26409293, 31370293, 25625422, 12176036, 11032405, 12172394, 17666888, 14691997, 11556849, 25388846) (less)
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not provided
(-)
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no classification provided
Method: literature only
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Autosomal recessive nonsyndromic hearing loss 1A
Affected status: not provided
Allele origin:
unknown
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GeneReviews
Accession: SCV000041046.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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loss_of_function_variant
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INGEBI, INGEBI / CONICET
Accession: SCV001433539.1
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. | Adam MP | - | 2023 | PMID: 20301449 |
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. | Tayoun AN | Human mutation | 2016 | PMID: 26444186 |
Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran. | Haghighat-Nia A | International journal of pediatric otorhinolaryngology | 2015 | PMID: 26409293 |
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. | Zheng J | PloS one | 2015 | PMID: 26043044 |
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. | García IE | The Journal of investigative dermatology | 2015 | PMID: 25625422 |
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. | Hernández-Juárez AA | International journal of pediatric otorhinolaryngology | 2014 | PMID: 25288386 |
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. | Dalamón V | Molecular biology reports | 2013 | PMID: 24158611 |
Low frequency of GJB2 mutations in thirty-five students with hearing loss in Chinese consanguineous families. | Chen G | International journal of pediatric otorhinolaryngology | 2011 | PMID: 21962949 |
GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China. | Chen G | International journal of pediatric otorhinolaryngology | 2011 | PMID: 21777984 |
Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. | Rodriguez-Paris J | PloS one | 2010 | PMID: 20668687 |
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. | Chinetti V | International journal of audiology | 2010 | PMID: 20233142 |
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. | Kenna MA | Archives of otolaryngology--head & neck surgery | 2010 | PMID: 20083784 |
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 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. | Dalamón V | Audiology & neuro-otology | 2010 | PMID: 19887791 |
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 |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. | Putcha GV | Genetics in medicine : official journal of the American College of Medical Genetics | 2007 | PMID: 17666888 |
GJB2 mutations and degree of hearing loss: a multicenter study. | Snoeckx RL | American journal of human genetics | 2005 | PMID: 16380907 |
GJB2: the spectrum of deafness-causing allele variants and their phenotype. | Azaiez H | Human mutation | 2004 | PMID: 15365987 |
First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test. | Santoro ML | Prenatal diagnosis | 2003 | PMID: 14691997 |
Extended at-home bleaching of tetracycline-stained teeth with different concentrations of carbamide peroxide. | Matis BA | Quintessence international (Berlin, Germany : 1985) | 2002 | PMID: 12666888 |
Hearing loss: frequency and functional studies of the most common connexin26 alleles. | D'Andrea P | Biochemical and biophysical research communications | 2002 | PMID: 12176036 |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. | Wu BL | Genetics in medicine : official journal of the American College of Medical Genetics | 2002 | PMID: 12172394 |
Connexin 26 studies in patients with sensorineural hearing loss. | Kenna MA | Archives of otolaryngology--head & neck surgery | 2001 | PMID: 11556849 |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. | Hamelmann C | Human mutation | 2001 | PMID: 11439000 |
Structure of the amino terminus of a gap junction protein. | Purnick PE | Archives of biochemistry and biophysics | 2000 | PMID: 11032405 |
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. | Rabionet R | Human genetics | 2000 | PMID: 10982180 |
Persistent atrial tachycardia in pregnancy. | Hubbard WN | British medical journal (Clinical research ed.) | 1983 | PMID: 6409293 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GJB2 | - | - | - | - |
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Text-mined citations for rs1801002 ...
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.