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NM_000166.6(GJB1):c.-103C>T AND Charcot-Marie-Tooth Neuropathy X

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 19, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000228634.12

Allele description [Variation Report for NM_000166.6(GJB1):c.-103C>T]

NM_000166.6(GJB1):c.-103C>T

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.-103C>T
HGVS:
  • NC_000023.11:g.71223249C>T
  • NG_008357.1:g.13038C>T
  • NM_000166.6:c.-103C>TMANE SELECT
  • NM_001097642.3:c.-16-443C>T
  • LRG_245t2:c.-103C>T
  • LRG_245:g.13038C>T
  • NC_000023.10:g.70443099C>T
  • NM_000166.5:c.-103C>T
Links:
dbSNP: rs863224971
NCBI 1000 Genomes Browser:
rs863224971
Molecular consequence:
  • NM_000166.6:c.-103C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001097642.3:c.-16-443C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth Neuropathy X
Identifiers:
MedGen: CN118851

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000283685Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 19, 2023) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R.

Neurology. 1996 Aug;47(2):541-4.

PubMed [citation]
PMID:
8757034

-459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy.

Li M, Cheng TS, Ho PW, Chan KH, Mak W, Cheung RT, Ramsden DB, Sham PC, Song Y, Ho SL.

J Peripher Nerv Syst. 2009 Mar;14(1):14-21. doi: 10.1111/j.1529-8027.2009.00201.x.

PubMed [citation]
PMID:
19335535
See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000283685.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This variant occurs in a non-coding region of the GJB1 gene. It does not change the encoded amino acid sequence of the GJB1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has been observed in individuals with Charcot-Marie-Tooth disease (PMID: 8757034, 19335535, 23827825, 26392352, 28283593, 28768847). It has also been observed to segregate with disease in related individuals. This variant is also known as c.-458C>T and c.-459C>T. ClinVar contains an entry for this variant (Variation ID: 217166). Studies have shown that this variant alters GJB1 gene expression (PMID: 10931843, 23827825). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024