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NM_000166.6(GJB1):c.281A>G (p.His94Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000637565.2
Variation ID:
637565
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.281A>G (p.His94Arg)

Allele ID
625569
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71223988 (GRCh38) GRCh38 UCSC
X: 70443838 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.71223988A>G
NG_008357.1:g.13777A>G
NM_000166.6:c.281A>G MANE Select NP_000157.1:p.His94Arg missense
... more HGVS
Protein change
H94R
Other names
-
Canonical SPDI
NC_000023.11:71223987:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1602349095
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 May 28, 2019 RCV000990863.1
Uncertain significance 1 no assertion criteria provided - RCV000789804.1
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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
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X Type 1
Allele origin: unknown
Mendelics
Accession: SCV001141913.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929188.1
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
Hand weakness in Charcot-Marie-Tooth disease 1X. Arthur-Farraj PJ Neuromuscular disorders : NMD 2012 PMID: 22464564

Text-mined citations for rs1602349095...

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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