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NM_000166.6(GJB1):c.542T>C (p.Val181Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 15, 2020
Accession:
VCV000637559.2
Variation ID:
637559
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.542T>C (p.Val181Ala)

Allele ID
625659
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71224249 (GRCh38) GRCh38 UCSC
X: 70444099 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_245:g.14038T>C
LRG_245t2:c.542T>C LRG_245p2:p.Val181Ala
NC_000023.11:g.71224249T>C
... more HGVS
Protein change
V181A
Other names
-
Canonical SPDI
NC_000023.11:71224248:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs876661252
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 15, 2020 RCV001350409.1
Uncertain significance 1 no assertion criteria provided - RCV000789797.1
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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
Uncertain significance
(May 15, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Allele origin: germline
Invitae
Accession: SCV001544808.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces valine with alanine at codon 181 of the GJB1 protein (p.Val181Ala). The valine 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: SCV000929181.1
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
CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors. Mones S Orphanet journal of rare diseases 2015 PMID: 25947624
Phenotype expression in women with CMT1X. Siskind CE Journal of the peripheral nervous system : JPNS 2011 PMID: 21692908
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. Miltenberger-Miltenyi G European journal of human genetics : EJHG 2009 PMID: 19259128
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. Casasnovas C Clinical genetics 2006 PMID: 17100997
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32. Abrams CK The Journal of neuroscience : the official journal of the Society for Neuroscience 2003 PMID: 14627639
Connexin32 and X-linked Charcot-Marie-Tooth disease. Bone LJ Neurobiology of disease 1997 PMID: 9361298

Text-mined citations for rs876661252...

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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