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NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002249416.1

Allele description [Variation Report for NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)]

NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)

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.392T>C (p.Leu131Pro)
HGVS:
  • NC_000023.11:g.71224099T>C
  • NG_008357.1:g.13888T>C
  • NM_000166.6:c.392T>CMANE SELECT
  • NM_001097642.3:c.392T>C
  • NP_000157.1:p.Leu131Pro
  • NP_001091111.1:p.Leu131Pro
  • LRG_245t2:c.392T>C
  • LRG_245:g.13888T>C
  • LRG_245p2:p.Leu131Pro
  • NC_000023.10:g.70443949T>C
  • NM_000166.5:c.392T>C
Protein change:
L131P
Links:
dbSNP: rs1555937166
NCBI 1000 Genomes Browser:
rs1555937166
Molecular consequence:
  • NM_000166.6:c.392T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.392T>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002516351Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Likely pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV002516351.1

#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: Sep 29, 2024