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:

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

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

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
Other names:
  • 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:
UniProtKB: P51787#VAR_001517; dbSNP: rs199472696
NCBI 1000 Genomes Browser:
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]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000234381GeneDxcriteria provided, single submitter
(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


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)

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

Last Updated: Nov 27, 2021

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