ClinVar Genomic variation as it relates to human health
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
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.457G>A (p.Val153Ile)
Variation ID: 44754 Accession: VCV000044754.52
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q12.11 13: 20189125 (GRCh38) [ NCBI UCSC ] 13: 20763264 (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 Feb 20, 2024 Jan 31, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_004004.6:c.457G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003995.2:p.Val153Ile missense NC_000013.11:g.20189125C>T NC_000013.10:g.20763264C>T NG_008358.1:g.8851G>A LRG_1350:g.8851G>A LRG_1350t1:c.457G>A LRG_1350p1:p.Val153Ile P29033:p.Val153Ile - Protein change
- V153I
- Other names
- -
- Canonical SPDI
- NC_000013.11:20189124: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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0.01318 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00223
Trans-Omics for Precision Medicine (TOPMed) 0.00233
The Genome Aggregation Database (gnomAD) 0.00247
Exome Aggregation Consortium (ExAC) 0.01057
The Genome Aggregation Database (gnomAD), exomes 0.00925
1000 Genomes Project 30x 0.01124
1000 Genomes Project 0.01318
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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Benign (8) |
criteria provided, multiple submitters, no conflicts
|
Mar 31, 2020 | RCV000037857.40 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
Jul 1, 2021 | RCV000270707.14 | |
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
Jul 1, 2021 | RCV000505519.16 | |
Benign (3) |
criteria provided, multiple submitters, no conflicts
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Jan 31, 2024 | RCV000755275.28 | |
Benign (1) |
criteria provided, single submitter
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Mar 6, 2018 | RCV001109786.12 | |
Benign (1) |
criteria provided, single submitter
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Aug 31, 2020 | RCV001257148.9 | |
Likely pathogenic (1) |
no assertion criteria provided
|
- | RCV001291334.9 | |
Benign (1) |
criteria provided, single submitter
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May 11, 2022 | RCV002496603.8 |
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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Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000309917.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
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Benign
(May 09, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Deafness, autosomal recessive 1A
Affected status: yes, no
Allele origin:
germline
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000599753.1
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: 1
|
|
Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal dominant nonsyndromic hearing loss 3A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000383002.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(Mar 31, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Athena Diagnostics Inc
Accession: SCV001143670.2
First in ClinVar: Jan 19, 2020 Last updated: Jan 26, 2021 |
|
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Benign
(May 11, 2022)
|
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: SCV002805646.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Benign
(Nov 27, 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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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603811.8
First in ClinVar: Oct 02, 2016 Last updated: Feb 20, 2024 |
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Benign
(Feb 08, 2013)
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criteria provided, single submitter
Method: clinical testing
|
not specified
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000193176.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
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Benign
(Dec 18, 2012)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000112274.8
First in ClinVar: Jan 17, 2014 Last updated: May 03, 2018 |
Number of individuals with the variant: 8
Sex: mixed
|
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Benign
(Mar 27, 2018)
|
criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000977441.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
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Benign
(May 28, 2015)
|
criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000061519.5
First in ClinVar: May 03, 2013 Last updated: Oct 02, 2016 |
Comment:
p.Val153Ile in exon 2 of GJB2: This variant has been reported in the literature as both a benign polymorphism (Connexins and Deafness Website and other … (more)
p.Val153Ile in exon 2 of GJB2: This variant has been reported in the literature as both a benign polymorphism (Connexins and Deafness Website and other reports) as well as a pathogenic variant (Snoeckx 2005 and other reports). Several repor ts show that this variant occurs at an equal frequency in both hearing loss prob ands and the general population (Guerci 2007, Abidi 2008, RamShankar 2003, Roux 2004, Rickard 2001). It was also identified in 5.6% (922/16488) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs111033186), including 31 homozygous individuals. Functional studie s have demonstrated no impact to synthesis and localization of the connexin 26 p rotein (Guerci 2007). It has also been reported in a homozygous state in 3 indiv iduals with normal hearing (Guerci 2007, RamShankar 2003) as well as identified as a compound heterozygote in a normal hearing individual with the p.Met34Thr mu tation (Malikova 2004). And finally, this variant did not segregate with hearing loss in two kindreds (Gasmelseed 2004, Malikova 2004). In summary, these data s uggest that the p.Val153Ile variant is benign. (less)
Number of individuals with the variant: 27
|
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Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Ichthyosis, hystrix-like, with hearing loss
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001267155.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Likely benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001267156.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. (less)
|
|
Benign
(Aug 31, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Nonsyndromic hearing loss and deafness
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
INGEBI, INGEBI / CONICET
Accession: SCV001433664.1
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.457G>A p.Val153Ile in GJB2 gene is 5% (1642/30610 Southeast … (more)
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of c.457G>A p.Val153Ile in GJB2 gene is 5% (1642/30610 Southeast Asian chromosomes with 95% CI) from Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/)), which meets the allele frequency threshold defined by the ClinGen Hearing Loss Expert Panel for considering very strong evidence against pathogenicity for autosomal recessive hearing loss variants (BA1). Functional studies demonstrated that mutants lost their abilities to form functional gap junction channels (PMID: 15241677). However, it was shown that there were not differences between p.Val153Ile mutant and wild-type results in dye transfer assay (Guerci V.I, et al 2007). Therefore, functional data was not counted. Besides, the p.Val153Ile change was detected in trans with c.35delG and in homozygous state in normal-hearing individuals applying to BS2 rule (PMID:11493200, 12746422). In summary, this variant meets criteria to be classified as benign for autosomal recessive non-syndromic hearing loss (BA1 and BS2). (less)
Number of individuals with the variant: 3
Clinical Features:
Postlingual moderate hearing loss (present)
Sex: mixed
Ethnicity/Population group: Caucasian
Geographic origin: Argentina
Tissue: blood
Secondary finding: no
|
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Benign
(Jul 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal dominant nonsyndromic hearing loss 3A
Affected status: no
Allele origin:
germline
|
Pars Genome Lab
Accession: SCV001749997.1
First in ClinVar: Jul 18, 2021 Last updated: Jul 18, 2021 |
Sex: mixed
|
|
Likely benign
(Jul 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: no
Allele origin:
germline
|
Pars Genome Lab
Accession: SCV001749996.1
First in ClinVar: Jul 18, 2021 Last updated: Jul 18, 2021 |
Sex: mixed
|
|
Benign
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001718430.4
First in ClinVar: Jun 15, 2021 Last updated: Feb 14, 2024 |
|
|
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: SCV001479808.1
First in ClinVar: Feb 20, 2021 Last updated: Feb 20, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001924668.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
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Benign
(Nov 14, 2019)
|
no assertion criteria provided
Method: clinical testing
|
Autosomal recessive deafness type 1A
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV002086044.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
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: SCV001974298.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
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: SCV001960037.2 First in ClinVar: Dec 25, 2021 Last updated: Dec 25, 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 |
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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 |
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. | Richard EM | Human mutation | 2019 | PMID: 30303587 |
Research of genetic bases of hereditary non-syndromic hearing loss. | Subaşıoğlu A | Turk pediatri arsivi | 2017 | PMID: 29062245 |
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). | Barashkov NA | PloS one | 2016 | PMID: 27224056 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients. | Burke WF | Hearing research | 2016 | PMID: 26778469 |
The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region. | Bozdoğan ST | The journal of international advanced otology | 2015 | PMID: 26381000 |
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily. | Amorini M | Annals of human genetics | 2015 | PMID: 26096904 |
Bioinformatic Analysis of GJB2 Gene Missense Mutations. | Yilmaz A | Cell biochemistry and biophysics | 2015 | PMID: 25388846 |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. | Shearer AE | American journal of human genetics | 2014 | PMID: 25262649 |
Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss. | Salvago P | International journal of audiology | 2014 | PMID: 24793888 |
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 |
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 |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. | Yao G | Acta oto-laryngologica | 2013 | PMID: 23638949 |
An informatics approach to analyzing the incidentalome. | Berg JS | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22995991 |
Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss. | Hashemi SB | Molecular biology reports | 2012 | PMID: 23073770 |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. | Zainal SA | International journal of pediatric otorhinolaryngology | 2012 | PMID: 22613756 |
Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association. | Matos TD | Genetics research international | 2011 | PMID: 22567369 |
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. | Bartsch O | Audiology & neuro-otology | 2010 | PMID: 20234132 |
Absence of mutations in GJB2 (Connexin-26) gene in an ethnic group of southwest Iran. | Galehdari H | Indian journal of human genetics | 2009 | PMID: 20407643 |
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 |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. | Dai P | Journal of translational medicine | 2009 | PMID: 19366456 |
Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population. | Abidi O | Genetic testing | 2008 | PMID: 19072567 |
GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. | Abidi O | International journal of pediatric otorhinolaryngology | 2007 | PMID: 17553572 |
High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. | Neocleous V | Genetic testing | 2006 | PMID: 17253936 |
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. | Dahl HH | Journal of medical genetics | 2006 | PMID: 16840571 |
GJB2 mutations and degree of hearing loss: a multicenter study. | Snoeckx RL | American journal of human genetics | 2005 | PMID: 16380907 |
Cx26 gene mutations in idiopathic progressive hearing loss. | Ravecca F | The Journal of otolaryngology | 2005 | PMID: 16076412 |
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients. | Dalamón V | Hearing research | 2005 | PMID: 15964725 |
Mutation analysis of the GJB2 (connexin 26) gene in Egypt. | Snoeckx RL | Human mutation | 2005 | PMID: 15954104 |
GJB2 mutations: passage through Iran. | Najmabadi H | American journal of medical genetics. Part A | 2005 | PMID: 15666300 |
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. | Santos RL | International journal of pediatric otorhinolaryngology | 2005 | PMID: 15656949 |
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 |
Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. | Frei K | Hearing research | 2004 | PMID: 15464308 |
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. | Seeman P | Clinical genetics | 2004 | PMID: 15253766 |
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. | Meşe G | Human genetics | 2004 | PMID: 15241677 |
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. | Gualandi E | Acta oto-laryngologica. Supplementum | 2004 | PMID: 15219044 |
The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population. | Mahdieh N | Clinical genetics | 2004 | PMID: 15151513 |
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 |
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. | Gasmelseed NMA | Human mutation | 2004 | PMID: 14722929 |
GJB2 gene mutations causing familial hereditary deafness in Turkey. | Bayazit YA | International journal of pediatric otorhinolaryngology | 2003 | PMID: 14643477 |
[Non-invasive screening for GJB2 mutations in buccal smears for the diagnosis of inherited hearing impairment]. | Schade G | Laryngo- rhino- otologie | 2003 | PMID: 12851846 |
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. | RamShankar M | Journal of medical genetics | 2003 | PMID: 12746422 |
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 |
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. | Rickard S | Journal of medical genetics | 2001 | PMID: 11494963 |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. | Marlin S | Archives of otolaryngology--head & neck surgery | 2001 | PMID: 11493200 |
Synaptic inhibition of accessory motoneurons evoked by stimulation of the trigeminal nerve in the cat. | Nishimura Y | Brain research | 1992 | PMID: 1511312 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GJB2 | - | - | - | - |
https://doi.org/10.1080/16513860701556253 | - | - | - | - |
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Text-mined citations for rs111033186 ...
HelpRecord last updated Apr 20, 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.