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NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Oct 1, 1999
Accession:
VCV000637187.1
Variation ID:
637187
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)

Allele ID
625575
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71224011 (GRCh38) GRCh38 UCSC
X: 70443861 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.70443861G>T
NC_000023.11:g.71224011G>T
NM_000166.6:c.304G>T MANE Select NP_000157.1:p.Glu102Ter nonsense
... more HGVS
Protein change
E102*
Other names
367G-T
Canonical SPDI
NC_000023.11:71224010:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 304040.0013
dbSNP: rs1602349143
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 1, 1999 RCV000011188.5
Uncertain significance 1 no assertion criteria provided - RCV000789249.1
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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
(Oct 01, 1999)
no assertion criteria provided
Method: literature only
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
Allele origin: germline
OMIM
Accession: SCV000031415.1
Submitted: (Dec 30, 2010)
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: SCV000928601.1
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
Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Tabaraud F Muscle & nerve 1999 PMID: 10487913

Text-mined citations for rs1602349143...

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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 Jul 27, 2021