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NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Sep 29, 2017
Accession:
VCV000543927.2
Variation ID:
543927
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)

Allele ID
534951
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71223715 (GRCh38) GRCh38 UCSC
X: 70443565 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.70443565G>A
NC_000023.11:g.71223715G>A
NG_008357.1:g.13504G>A
... more HGVS
Protein change
W3*
Other names
-
Canonical SPDI
NC_000023.11:71223714:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA413499283
dbSNP: rs1555936989
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 29, 2017 RCV000654851.1
Uncertain significance 1 no assertion criteria provided - RCV000789800.1
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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
Pathogenic
(Sep 29, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Allele origin: germline
Invitae
Accession: SCV000776753.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change results in a premature translational stop signal in the GJB1 gene (p.Trp3*). While this is not anticipated to result in nonsense mediated … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929184.1
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
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families. Liu L Clinical genetics 2017 PMID: 27804109
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? Werheid F Brain and behavior 2016 PMID: 27088055
Hand weakness in Charcot-Marie-Tooth disease 1X. Arthur-Farraj PJ Neuromuscular disorders : NMD 2012 PMID: 22464564
Altered trafficking of mutant connexin32. Deschênes SM The Journal of neuroscience : the official journal of the Society for Neuroscience 1997 PMID: 9364054
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Bone LJ Neurology 1995 PMID: 7477983
- - - - PMID: 224645664

Text-mined citations for rs1555936989...

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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