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NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 29, 2019
Accession:
VCV000245761.5
Variation ID:
245761
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)

Allele ID
245180
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71223839 (GRCh38) GRCh38 UCSC
X: 70443689 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_245:g.13628G>C
LRG_245t2:c.132G>C LRG_245p2:p.Trp44Cys
NC_000023.10:g.70443689G>C
... more HGVS
Protein change
W44C
Other names
-
Canonical SPDI
NC_000023.11:71223838:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10584635
dbSNP: rs879253935
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 18, 2015 RCV000235491.1
Likely pathogenic 1 criteria provided, single submitter Nov 29, 2019 RCV001068519.2
Uncertain significance 1 no assertion criteria provided - RCV000789296.1
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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
Likely pathogenic
(May 18, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000292852.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The W44C variant has been reported previously in association with CMTX1 (Stenson et al., 2014). Additionally, a different amino acid substitution at the same position … (more)
Likely pathogenic
(Nov 29, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Allele origin: germline
Invitae
Accession: SCV001233635.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces tryptophan with cysteine at codon 44 of the GJB1 protein (p.Trp44Cys). The tryptophan residue is highly conserved and there is a … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928649.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)

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
[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X]. Sharkova IV Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2012 PMID: 23011429

Text-mined citations for rs879253935...

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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 Oct 30, 2021