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NM_000166.6(GJB1):c.272T>A (p.Val91Glu) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 23, 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:
RCV003152859.1

Allele description [Variation Report for NM_000166.6(GJB1):c.272T>A (p.Val91Glu)]

NM_000166.6(GJB1):c.272T>A (p.Val91Glu)

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.272T>A (p.Val91Glu)
HGVS:
  • NC_000023.11:g.71223979T>A
  • NG_008357.1:g.13768T>A
  • NM_000166.6:c.272T>AMANE SELECT
  • NM_001097642.3:c.272T>A
  • NP_000157.1:p.Val91Glu
  • NP_001091111.1:p.Val91Glu
  • NP_001091111.1:p.Val91Glu
  • LRG_245t1:c.272T>A
  • LRG_245t2:c.272T>A
  • LRG_245:g.13768T>A
  • LRG_245p1:p.Val91Glu
  • LRG_245p2:p.Val91Glu
  • NC_000023.10:g.70443829T>A
  • NM_001097642.2:c.272T>A
Protein change:
V91E
Molecular consequence:
  • NM_000166.6:c.272T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.272T>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0038413303billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 23, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From 3billion, SCV003841330.1

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

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.98; 3Cnet: 1.00). A different missense change at the same codon (p.Val91Met) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000195025). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Mar 26, 2023