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NM_000166.6(GJB1):c.376C>T (p.His126Tyr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 10, 2019)
Last evaluated:
Apr 25, 2018
Accession:
VCV000245904.3
Variation ID:
245904
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.376C>T (p.His126Tyr)

Allele ID
245184
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71224083 (GRCh38) GRCh38 UCSC
X: 70443933 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P08034:p.His126Tyr
NC_000023.10:g.70443933C>T
NC_000023.11:g.71224083C>T
... more HGVS
Protein change
H126Y
Other names
-
Canonical SPDI
NC_000023.11:71224082:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: P08034#VAR_029923
dbSNP: rs879253995
ClinGen: CA10584639
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 Sep 2, 2015 RCV000236069.1
Likely pathogenic 1 criteria provided, single submitter Apr 25, 2018 RCV000698707.1
Uncertain significance 1 no assertion criteria provided - RCV000789056.1
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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
(Sep 02, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000293099.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The H126Y variant has been previously reported in a male patient with features of CMT; the variant was also identified in his mother and sister … (more)
Likely pathogenic
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Allele origin: germline
Invitae
Accession: SCV000827387.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces histidine with tyrosine at codon 126 of the GJB1 protein (p.His126Tyr). The histidine residue is moderately 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: SCV000928405.1
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
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Panosyan FB Neurology 2017 PMID: 28768847
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation. Verhelst HE European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000 PMID: 11030070

Text-mined citations for rs879253995...

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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 24, 2021