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NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) AND Charcot-Marie-Tooth disease

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 22, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000144863.5

Allele description [Variation Report for NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)]

NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)

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.688C>T (p.Arg230Cys)
HGVS:
  • NC_000023.11:g.71224395C>T
  • NG_008357.1:g.14184C>T
  • NM_000166.6:c.688C>TMANE SELECT
  • NM_001097642.3:c.688C>T
  • NP_000157.1:p.Arg230Cys
  • NP_001091111.1:p.Arg230Cys
  • NP_001091111.1:p.Arg230Cys
  • LRG_245t1:c.688C>T
  • LRG_245t2:c.688C>T
  • LRG_245:g.14184C>T
  • LRG_245p1:p.Arg230Cys
  • LRG_245p2:p.Arg230Cys
  • NC_000023.10:g.70444245C>T
  • NM_000166.5:c.688C>T
  • NM_001097642.2:c.688C>T
  • P08034:p.Arg230Cys
Protein change:
R230C
Links:
UniProtKB: P08034#VAR_002133; dbSNP: rs587781246
NCBI 1000 Genomes Browser:
rs587781246
Molecular consequence:
  • NM_000166.6:c.688C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.688C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172134Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust - Charcot-Marie-Tooth disease study
no assertion criteria provided
Pathogenic
(Nov 1, 2013) 		inheritedresearch

PubMed (3)
[See all records that cite these PMIDs]

SCV002087253Natera, Inc.
no assertion criteria provided
Likely benign
(Jan 22, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Citations

PubMed

Connexin32 and X-linked Charcot-Marie-Tooth disease.

Bone LJ, Deschênes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS.

Neurobiol Dis. 1997;4(3-4):221-30. Review.

PubMed [citation]
PMID:
9361298

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW, Kleopa KA, Shumas S, Scherer SS.

Neurobiol Dis. 2002 Oct;11(1):43-52.

PubMed [citation]
PMID:
12460545
See all PubMed Citations (3)
PMC

Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease.

Høyer H, Braathen GJ, Eek AK, Nordang GB, Skjelbred CF, Russell MB.

BioMed Research International. 2015 Jan 8; 2015: 960404

PMC [article]
PMCID:
PMC4306395
PMID:
25648254
DOI:
10.1155/2015/960404

Details of each submission

From Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust - Charcot-Marie-Tooth disease study, SCV000172134.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)

Description

pathogenic in males not in females

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

From Natera, Inc., SCV002087253.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024