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NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Jun 20, 2017
Accession:
VCV000444867.2
Variation ID:
444867
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)

Allele ID
438507
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71223757 (GRCh38) GRCh38 UCSC
X: 70443607 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_245:g.13546C>G
LRG_245t2:c.50C>G LRG_245p2:p.Ser17Cys
LRG_245t1:c.50C>G LRG_245p1:p.Ser17Cys
... more HGVS
Protein change
S17C
Other names
-
Canonical SPDI
NC_000023.11:71223756:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA413499562
dbSNP: rs1555937009
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jun 20, 2017 RCV000512762.2
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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
(Jun 20, 2017)
criteria provided, single submitter
Method: clinical testing
CMT
Allele origin: germline
Department of Human Genetics, University Hospital Magdeburg
Accession: SCV000608286.1
Submitted: (Oct 27, 2017)
Evidence details
Comment:
Two affected brothers
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928615.1
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
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. Mandich P Journal of human genetics 2008 PMID: 18379723

Text-mined citations for rs1555937009...

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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