NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000444307.5

Allele description [Variation Report for NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)]

NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)

Gene:
GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)
HGVS:
  • NC_000006.12:g.121447932G>A
  • NG_008308.1:g.17334G>A
  • NM_000165.5:c.1085G>AMANE SELECT
  • NP_000156.1:p.Arg362Gln
  • LRG_1289t1:c.1085G>A
  • LRG_1289:g.17334G>A
  • LRG_1289p1:p.Arg362Gln
  • NC_000006.11:g.121769078G>A
  • NM_000165.3:c.1085G>A
  • NM_000165.4:c.1085G>A
  • P17302:p.Arg362Gln
Protein change:
R362Q; ARG362GLN
Links:
UniProtKB: P17302#VAR_032924; OMIM: 121014.0011; dbSNP: rs2227885
NCBI 1000 Genomes Browser:
rs2227885
Molecular consequence:
  • NM_000165.5:c.1085G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000518409GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 14, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000518409.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published previously in the presence of a second GJA1 variant, in association with hypoplastic left heart syndrome in several unrelated individuals (Dasgupta et al., 2001); In vitro functional study showed that the R362Q variant abolishes phosphorylation of the connexin 43 channel regulation domain (Dasgupta et al., 2001); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22995991, 31564432, 22090377, 11470490, 31019026)

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

Last Updated: Oct 8, 2021

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