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NM_004004.6(GJB2):c.241C>G (p.Leu81Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(1); Likely benign(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4
First in ClinVar:
Aug 5, 2018
Most recent Submission:
May 31, 2020
Last evaluated:
Jan 2, 2018
Accession:
VCV000311372.4
Variation ID:
311372
Description:
single nucleotide variant
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NM_004004.6(GJB2):c.241C>G (p.Leu81Val)

Allele ID
335557
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.11
Genomic location
13: 20189341 (GRCh38) GRCh38 UCSC
13: 20763480 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004004.6:c.241C>G MANE Select NP_003995.2:p.Leu81Val missense
NC_000013.11:g.20189341G>C
NC_000013.10:g.20763480G>C
... more HGVS
Protein change
L81V
Other names
-
Canonical SPDI
NC_000013.11:20189340:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00015
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00020
Links
ClinGen: CA6904298
dbSNP: rs145216882
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000280037.3
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000340839.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 2, 2018 RCV000671813.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJB2 Dosage sensitivity unlikely No evidence available GRCh38
GRCh37
451 509

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
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: SCV000383025.3
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)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant nonsyndromic hearing loss 3A
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000383029.3
First in ClinVar: Dec 06, 2016
Last updated: May 31, 2020
Publications:
PubMed (2)
PubMed: 1912502417666888
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)
Likely benign
(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: SCV000383026.3
First in ClinVar: Dec 06, 2016
Last updated: May 31, 2020
Publications:
PubMed (2)
PubMed: 1912502417666888
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)
Uncertain significance
(Jan 02, 2018)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive nonsyndromic hearing loss 1A
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000796835.1
First in ClinVar: Aug 05, 2018
Last updated: Aug 05, 2018
Publications:
PubMed (2)
PubMed: 1912502417666888

Functional evidence

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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 this variant

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Title Author Journal Year Link
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Batissoco AC Ear and hearing 2009 PMID: 19125024
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

Text-mined citations for rs145216882...

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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 Apr 25, 2022