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NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)

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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:
Apr 15, 2010
Accession:
VCV000021080.3
Variation ID:
21080
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)

Allele ID
33932
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71223852 (GRCh38) GRCh38 UCSC
X: 70443702 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P08034:p.Ser49Pro
NM_001097642.2:c.145T>C NP_001091111.1:p.Ser49Pro missense
NC_000023.10:g.70443702T>C
... more HGVS
Protein change
S49P
Other names
-
Canonical SPDI
NC_000023.11:71223851:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs116840817
ClinGen: CA341595
UniProtKB: P08034#VAR_029907
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 Apr 15, 2010 RCV000020170.2
Uncertain significance 1 no assertion criteria provided - RCV000789951.1
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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
pathologic
(Apr 15, 2010)
no assertion criteria provided
Method: curation
Charcot-Marie-Tooth Neuropathy X Type 1
Allele origin: not provided
GeneReviews
Accession: SCV000040498.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929336.1
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
<i>GJB1</i> Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes Abrams CK - 2020 PMID: 20301548
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. Street VA Neuromuscular disorders : NMD 2002 PMID: 12207932

Text-mined citations for rs116840817...

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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