NM_000166.6(GJB1):c.637A>G (p.Ile213Val) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: May 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622462.1

Allele description [Variation Report for NM_000166.6(GJB1):c.637A>G (p.Ile213Val)]

NM_000166.6(GJB1):c.637A>G (p.Ile213Val)

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.637A>G (p.Ile213Val)
HGVS:
  • NC_000023.11:g.71224344A>G
  • NG_008357.1:g.14133A>G
  • NM_000166.6:c.637A>GMANE SELECT
  • NM_001097642.3:c.637A>G
  • NP_000157.1:p.Ile213Val
  • NP_001091111.1:p.Ile213Val
  • LRG_245t2:c.637A>G
  • LRG_245:g.14133A>G
  • LRG_245p2:p.Ile213Val
  • NC_000023.10:g.70444194A>G
  • NM_000166.5:c.637A>G
Protein change:
I213V
Links:
dbSNP: rs753503984
NCBI 1000 Genomes Browser:
rs753503984
Molecular consequence:
  • NM_000166.6:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742508Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 5, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

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

Details of each submission

From Ambry Genetics, SCV000742508.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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