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NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 10, 2019)
Last evaluated:
Feb 2, 2017
Accession:
VCV000447428.2
Variation ID:
447428
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)

Allele ID
442443
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71223973 (GRCh38) GRCh38 UCSC
X: 70443823 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.70443823T>C
NC_000023.11:g.71223973T>C
NG_008357.1:g.13762T>C
... more HGVS
Protein change
L89P
Other names
-
Canonical SPDI
NC_000023.11:71223972:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA413501709
dbSNP: rs1555937122
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 Dec 13, 2016 RCV000516283.1
Pathogenic 1 criteria provided, single submitter Feb 2, 2017 RCV000552811.1
Uncertain significance 1 no assertion criteria provided - RCV000789233.1
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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
(Dec 13, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613481.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (3)
Pathogenic
(Feb 02, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Allele origin: germline
Invitae
Accession: SCV000658905.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces leucine with proline at codon 89 of the GJB1 protein (p.Leu89Pro). The leucine 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: SCV000928585.1
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
Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease. Da Y Neurological research 2016 PMID: 27367520
Study of antibodies to PMP22, IL-6 and TNF-alpha concentrations in serum in a CMTX1 family. Da Y Neuroscience letters 2007 PMID: 17714866
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Janssen EA Human genetics 1997 PMID: 9099841

Text-mined citations for rs1555937122...

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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