VCV000044732.41 - ClinVar

NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)

Germline

Classification

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.

(17)

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.

Benign/Likely benign

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)

Variation ID: 44732 Accession: VCV000044732.41

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 13q12.11 13: 20189333 (GRCh38) [ NCBI UCSC ] 13: 20763472 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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	Jan 31, 2015	Oct 8, 2024	Jan 31, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_004004.6:c.249C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_003995.2:p.Phe83Leu	missense
NC_000013.11:g.20189333G>C
NC_000013.10:g.20763472G>C
NG_008358.1:g.8643C>G
LRG_1350:g.8643C>G
LRG_1350t1:c.249C>G	LRG_1350p1:p.Phe83Leu
	P29033:p.Phe83Leu

... more HGVS ... less HGVS

Protein change

F83L

Other names

Canonical SPDI

NC_000013.11:20189332:G:C

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

functionally_normal; Sequence Ontology [ SO:0002219]

Global minor allele frequency (GMAF) Help The 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.

0.00040 (C)

Allele frequency Help The frequency of the allele represented by this VCV record.

1000 Genomes Project 0.00040

1000 Genomes Project 30x 0.00047

Trans-Omics for Precision Medicine (TOPMed) 0.00147

The Genome Aggregation Database (gnomAD) 0.00150

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00238

Links

ClinGen: CA134955 UniProtKB: P29033#VAR_002142 dbSNP: rs111033218 VarSome

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
Gene	OMIM	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.
GJB2		Dosage sensitivity unlikely	No evidence available	GRCh38 GRCh37	570	637

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.
not specified	Benign (2)	criteria provided, multiple submitters, no conflicts	Feb 11, 2015	RCV000037828.18
Autosomal recessive nonsyndromic hearing loss 1A	Likely benign (3)	criteria provided, multiple submitters, no conflicts	May 9, 2017	RCV000175768.9
Ichthyosis, hystrix-like, with hearing loss	Likely benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV000274859.5
Autosomal dominant nonsyndromic hearing loss 3A	Likely benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV000374467.5
not provided	Benign/Likely benign (7)	criteria provided, multiple submitters, no conflicts	Jan 31, 2024	RCV000757329.21
Nonsyndromic genetic hearing loss	Likely benign (1)	criteria provided, single submitter	Aug 31, 2020	RCV001257146.1
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Ichthyosis, hystrix-like, with hearing loss Knuckle pads, deafness AND leukonychia syndrome Mutilating keratoderma Palmoplantar keratoderma-deafness syndrome X-linked mixed hearing loss with perilymphatic gusher	Likely benign (1)	criteria provided, single submitter	Nov 1, 2021	RCV002504896.1
GJB2-related disorder	Likely benign (1)	no assertion criteria provided	Feb 28, 2020	RCV004534805.2

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.
Benign (Jun 26, 2012)	criteria provided, single submitter (LMM Criteria) Method: clinical testing	not specified Affected status: not provided Allele origin: germline	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Accession: SCV000061490.5 First in ClinVar: May 03, 2013 Last updated: Jan 31, 2015	Publications: PubMed (18) PubMed: 10633135‚ 9600457‚ 10982180‚ 12865758‚ 12505163‚ 15464308‚ 15070423‚ 15547422‚ 16222667‚ 15656949‚ 15744158‚ 17041943‚ 17485979‚ 17426645‚ 18668259‚ 19235794‚ 20956747‚ 11102979 Comment: Phe83Leu in exon 2 of GJB2: This variant is not expected to have clinical signif icance because it has been identified in 0.3% (28/8572) of … (more) Phe83Leu in exon 2 of GJB2: This variant is not expected to have clinical signif icance because it has been identified in 0.3% (28/8572) of European American chr omosomes and 0.07% (3/4403) of African American chromosomes from a broad populat ion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; db SNP rs111033218). In addition, this has been observed at equal frequencies in af fected individuals and controls (Scott 1998, Heathcote 2000, Prasad 2000, Rabion et 2000, Pandya 2003, Bruzzone 2003, Frei 2004, Roux 2004, Sinnathuray 2004, Che ng 2005, Santos 2005, Frei 2006, Tang 2006, Ramsebner 2007, Ross 2007, Picotti 2 009, Lee 2009, Kimani 2010). Furthermore, functional studies revealed that the v ariant protein behaves similar to that of the wild type protein (Bruzzone 2003). (less) Number of individuals with the variant: 16
Likely benign (Feb 18, 2019)	criteria provided, single submitter (Athena Diagnostics Criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Athena Diagnostics Accession: SCV001143663.1 First in ClinVar: Jan 18, 2020 Last updated: Jan 18, 2020	Publications: PubMed (5) PubMed: 12505163‚ 10633135‚ 17426645‚ 15547422‚ 9600457
Likely benign (Nov 01, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) 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: SCV002808036.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Likely benign (Jul 23, 2020)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000977443.3 First in ClinVar: Aug 26, 2019 Last updated: Mar 04, 2023	Comment: This variant is associated with the following publications: (PMID: 22995991, 9600457, 26778469, 30828346, 25262649, 20956747, 15070423, 12505163, 24158611, 20981092, 12325027, 25388846, 30245029, 33096615)
Likely benign (May 09, 2017)	criteria provided, single submitter (DGD Variant Analysis Guidelines) Method: clinical testing	Deafness, autosomal recessive 1A Affected status: yes, no Allele origin: germline	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia Accession: SCV000599739.1 First in ClinVar: Sep 19, 2017 Last updated: Sep 19, 2017	Observation 1: Number of individuals with the variant: 2 Observation 2: Number of individuals with the variant: 1
Benign (Feb 11, 2015)	criteria provided, single submitter (EGL Classification Definitions 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000227323.5 First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018	Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GJB2 http://davinci.crg.es/deafness/i… http://davinci.crg.es/deafness/index.php Number of individuals with the variant: 2 Sex: mixed
Likely benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Autosomal dominant nonsyndromic hearing loss 3A Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000383024.3 First in ClinVar: Dec 06, 2016 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)
Likely benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Ichthyosis, hystrix-like, with hearing loss Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000383022.3 First in ClinVar: Dec 06, 2016 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)
Likely benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Autosomal recessive nonsyndromic hearing loss 1A Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000383021.3 First in ClinVar: Dec 06, 2016 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)
Likely benign (Aug 31, 2020)	criteria provided, single submitter (ClinGen HL ACMG Specifications v1) Method: clinical testing	Nonsyndromic hearing loss and deafness (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	INGEBI, INGEBI / CONICET Accession: SCV001433662.1 First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020	Publications: PubMed (1) PubMed: 12505163 Comment: Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of c.249C>G variant (p.Phe83Leu) in GJB2 gene is 0,28% (404/ … (more) Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of c.249C>G variant (p.Phe83Leu) in GJB2 gene is 0,28% (404/ 29116 European non-Finnish 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 supporting evidence against pathogenicity for autosomal recessive hearing loss variants (BS1_Supporting). The p.Phe83Leu change has been identified in trans with a pathogenic dominant variant in a family case with KID syndrome applying to BP2 rule (PMID: 10633135). Functional studies demonstrated that p.Phe83Leu mutant generated electrical conductance like the wild type in Xenopus laevis oocytes. Besides, 100% of dye transfer was detected in HeLa cells expressing p.Phe83Leu mutant (PMID:12505163). Hence, this evidence meets BS3_Sup standard. Therefore, this variant meets criteria to be classified as likely benign for autosomal recessive non-syndromic hearing loss: (BS1_Supporting, BP2 and BS3_Supporting). (less) Number of individuals with the variant: 2 Clinical Features: Prelingual profound hearing loss (present) Sex: mixed Ethnicity/Population group: Caucasian Geographic origin: Argentina Tissue: blood Secondary finding: no
Benign (Sep 13, 2022)	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories Accession: SCV000885512.4 First in ClinVar: Feb 18, 2019 Last updated: Mar 04, 2023
Likely benign (Jan 31, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001032575.6 First in ClinVar: Dec 17, 2019 Last updated: Feb 14, 2024
Likely benign (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: not provided	not provided (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Breakthrough Genomics, Breakthrough Genomics Accession: SCV005219303.1 First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024
Likely benign (Feb 28, 2020)	no assertion criteria provided Method: clinical testing	GJB2-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004748349.2 First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024	Comment: This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Benign (Apr 19, 2020)	no assertion criteria provided Method: clinical testing	Autosomal recessive deafness type 1A Affected status: unknown Allele origin: germline	Natera, Inc. Accession: SCV001453870.1 First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021
Likely benign (-)	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: SCV001957893.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
Likely benign (-)	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: SCV001965984.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021
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Comment:

Phe83Leu in exon 2 of GJB2: This variant is not expected to have clinical signif icance because it has been identified in 0.3% (28/8572) of European American chr omosomes and 0.07% (3/4403) of African American chromosomes from a broad populat ion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; db SNP rs111033218). In addition, this has been observed at equal frequencies in af fected individuals and controls (Scott 1998, Heathcote 2000, Prasad 2000, Rabion et 2000, Pandya 2003, Bruzzone 2003, Frei 2004, Roux 2004, Sinnathuray 2004, Che ng 2005, Santos 2005, Frei 2006, Tang 2006, Ramsebner 2007, Ross 2007, Picotti 2 009, Lee 2009, Kimani 2010). Furthermore, functional studies revealed that the v ariant protein behaves similar to that of the wild type protein (Bruzzone 2003).

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, 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.

Comment:

Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of c.249C>G variant (p.Phe83Leu) in GJB2 gene is 0,28% (404/ 29116 European non-Finnish 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 supporting evidence against pathogenicity for autosomal recessive hearing loss variants (BS1_Supporting). The p.Phe83Leu change has been identified in trans with a pathogenic dominant variant in a family case with KID syndrome applying to BP2 rule (PMID: 10633135). Functional studies demonstrated that p.Phe83Leu mutant generated electrical conductance like the wild type in Xenopus laevis oocytes. Besides, 100% of dye transfer was detected in HeLa cells expressing p.Phe83Leu mutant (PMID:12505163). Hence, this evidence meets BS3_Sup standard. Therefore, this variant meets criteria to be classified as likely benign for autosomal recessive non-syndromic hearing loss: (BS1_Supporting, BP2 and BS3_Supporting).

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.
functionally_normal (SO:0002219)			INGEBI, INGEBI / CONICET Accession: SCV001433662.1	Publications PubMed (1)

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities.	Kimani JW	Archives of otolaryngology--head & neck surgery	2010	PMID: 20956747
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations.	Lee KH	The Laryngoscope	2009	PMID: 19235794
Correlation between GJB2 mutations and audiological deficits: personal experience.	Picciotti PM	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	2009	PMID: 18668259
High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.	Ramsebner R	Ear and hearing	2007	PMID: 17485979
GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection.	Ross SA	Pediatric research	2007	PMID: 17426645
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.	Tang HY	American journal of medical genetics. Part A	2006	PMID: 17041943
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.	Cheng X	American journal of medical genetics. Part A	2005	PMID: 16222667
GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.	Frei K	The Laryngoscope	2005	PMID: 15744158
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.	Santos RL	International journal of pediatric otorhinolaryngology	2005	PMID: 15656949
Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness.	Sinnathuray AR	Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology	2004	PMID: 15547422
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
Molecular epidemiology of DFNB1 deafness in France.	Roux AF	BMC medical genetics	2004	PMID: 15070423
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.	Pandya A	Genetics in medicine : official journal of the American College of Medical Genetics	2003	PMID: 12865758
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.	Bruzzone R	FEBS letters	2003	PMID: 12505163
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).	Prasad S	Human mutation	2000	PMID: 11102979
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.	Rabionet R	Human genetics	2000	PMID: 10982180
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).	Heathcote K	Journal of medical genetics	2000	PMID: 10633135
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.	Scott DA	Human mutation	1998	PMID: 9600457
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GJB2	-	-	-	-
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Text-mined citations for rs111033218 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 10, 2024

ClinVar Genomic variation as it relates to human health

NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs111033218 ...