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NM_000166.6(GJB1):c.637A>G (p.Ile213Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Aug 9, 2017
Accession:
VCV000521767.6
Variation ID:
521767
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.637A>G (p.Ile213Val)

Allele ID
512743
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71224344 (GRCh38) GRCh38 UCSC
X: 70444194 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_245:g.14133A>G
LRG_245t2:c.637A>G LRG_245p2:p.Ile213Val
NC_000023.10:g.70444194A>G
... more HGVS
Protein change
I213V
Other names
-
Canonical SPDI
NC_000023.11:71224343:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD) 0.00005
Links
ClinGen: CA10445323
dbSNP: rs753503984
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 5, 2017 RCV000622462.1
Uncertain significance 1 criteria provided, single submitter Aug 9, 2017 RCV000654834.1
Uncertain significance 2 criteria provided, single submitter - RCV000789057.2
Uncertain significance 2 no assertion criteria provided - RCV001700255.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJB1 - - GRCh38
GRCh37
598 730

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 09, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Allele origin: germline
Invitae
Accession: SCV000776736.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces isoleucine with valine at codon 213 of the GJB1 protein (p.Ile213Val). The isoleucine residue is moderately conserved and there is a … (more)
Uncertain significance
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336656.1
Submitted: (Apr 07, 2020)
Evidence details
Uncertain significance
(May 05, 2017)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000742508.2
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (1)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928406.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001921595.1
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001971977.1
Submitted: (Sep 21, 2021)
Evidence details

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
Diverse trafficking abnormalities of connexin32 mutants causing CMTX. Yum SW Neurobiology of disease 2002 PMID: 12460545

Text-mined citations for rs753503984...

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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 Nov 27, 2021