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NM_000166.6(GJB1):c.101T>C (p.Met34Thr)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Aug 16, 2016
Accession:
VCV000406224.2
Variation ID:
406224
Description:
single nucleotide variant
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NM_000166.6(GJB1):c.101T>C (p.Met34Thr)

Allele ID
404290
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71223808 (GRCh38) GRCh38 UCSC
X: 70443658 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_245:g.13597T>C
LRG_245t2:c.101T>C LRG_245p2:p.Met34Thr
NC_000023.10:g.70443658T>C
... more HGVS
Protein change
M34T
Other names
-
Canonical SPDI
NC_000023.11:71223807:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16616534
dbSNP: rs1060500998
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 Aug 16, 2016 RCV000467465.1
Uncertain significance 1 no assertion criteria provided - RCV000789955.1
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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
(Aug 16, 2016)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Allele origin: germline
Invitae
Accession: SCV000544768.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces methionine with threonine at codon 34 of the GJB1 protein (p.Met34Thr). The methionine residue is moderately 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: SCV000929340.1
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
Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. Nicholson GA Neurology 1998 PMID: 9818870

Text-mined citations for rs1060500998...

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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 Nov 27, 2021