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NM_000166.6(GJB1):c.634del (p.Leu212fs) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
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:
RCV003447204.1

Allele description [Variation Report for NM_000166.6(GJB1):c.634del (p.Leu212fs)]

NM_000166.6(GJB1):c.634del (p.Leu212fs)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.634del (p.Leu212fs)
HGVS:
  • NC_000023.11:g.71224341del
  • NG_008357.1:g.14130del
  • NM_000166.6:c.634delMANE SELECT
  • NM_001097642.3:c.634del
  • NP_000157.1:p.Leu212fs
  • NP_001091111.1:p.Leu212fs
  • LRG_245t2:c.634del
  • LRG_245:g.14130del
  • LRG_245p2:p.Leu212fs
  • NC_000023.10:g.70444191del
  • NM_000166.5:c.634delC
Protein change:
L212fs
Links:
dbSNP: rs1602349791
NCBI 1000 Genomes Browser:
rs1602349791
Molecular consequence:
  • NM_000166.6:c.634del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001097642.3:c.634del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Charcot-Marie-Tooth disease X-linked dominant 1
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010549; MedGen: C0393808; Orphanet: 101075; OMIM: 302800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174702Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.

Casasnovas C, Banchs I, Corral J, Martínez-Matos JA, Volpini V.

Clin Genet. 2006 Dec;70(6):516-23. Erratum in: Clin Genet. 2007 Feb;71(2):194. Clin Genet. 2008 Feb;73(2):196.

PubMed [citation]
PMID:
17100997

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174702.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2023