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NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Apr 24, 2017
Accession:
VCV000477599.2
Variation ID:
477599
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)

Allele ID
471000
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71224222 (GRCh38) GRCh38 UCSC
X: 70444072 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.70444072C>T
NC_000023.11:g.71224222C>T
NG_008357.1:g.14011C>T
... more HGVS
Protein change
P172L
Other names
-
Canonical SPDI
NC_000023.11:71224221:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA413502914
dbSNP: rs1555937218
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 Apr 24, 2017 RCV000559484.1
Uncertain significance 1 no assertion criteria provided - RCV000789937.1
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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
(Apr 24, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Allele origin: germline
Invitae
Accession: SCV000658914.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces proline with leucine at codon 172 of the GJB1 protein (p.Pro172Leu). The proline residue is highly conserved and there is a … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929322.1
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
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Silander K Human mutation 1998 PMID: 9633821

Text-mined citations for rs1555937218...

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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