NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 4, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000182078.5

Allele description [Variation Report for NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)]

NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
Other names:
p.R174C:CGC>TGC
HGVS:
  • NC_000011.10:g.2570670C>T
  • NG_008935.1:g.130680C>T
  • NM_000218.2:c.520C>T
  • NM_000218.3:c.520C>TMANE SELECT
  • NM_181798.1:c.139C>T
  • NP_000209.2:p.Arg174Cys
  • NP_000209.2:p.Arg174Cys
  • NP_861463.1:p.Arg47Cys
  • LRG_287t1:c.520C>T
  • LRG_287t2:c.139C>T
  • LRG_287:g.130680C>T
  • LRG_287p1:p.Arg174Cys
  • LRG_287p2:p.Arg47Cys
  • NC_000011.9:g.2591900C>T
  • P51787:p.Arg174Cys
Protein change:
R174C
Links:
UniProtKB: P51787#VAR_001517; dbSNP: rs199472696
NCBI 1000 Genomes Browser:
rs199472696
Molecular consequence:
  • NM_000218.2:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000218.3:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.139C>T - 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
SCV000234381GeneDxcriteria provided, single submitter
Pathogenic
(Feb 4, 2021)
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, SCV000234381.14

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

Description

Reported as pathogenic in ClinVar by other clinical laboratories (ClinVar Variant ID# 53058; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published in vitro functional studies demonstrate a damaging effect as the R174C variant impairs potassium channel regulation and function (Chouabe et al., 1997; Matavel et al., 2010; Wu et al., 2018); This variant is associated with the following publications: (PMID: 32383558, 31737537, 29037160, 26907222, 27761162, 23130128, 10973849, 15840476, 9386136, 26986070, 19815527, 26669661, 23728945, 27251404, 23392653, 19934648, 19716085, 9312006, 22581653, 11668638, 19841300, 29532034, 29449639, 29033053)

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

Last Updated: Nov 27, 2021

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