ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) (rs193922365)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618395 SCV000738185 likely pathogenic Cardiovascular phenotype 2017-09-27 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Deficient protein function in appropriate functional assay(s);Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000709734 SCV000839972 likely pathogenic Long QT syndrome 1 2018-05-01 criteria provided, single submitter clinical testing A heterozygous c.905C>T (p.Ala302Val) likely pathogenic variant in the KCNQ1 gene was detected in this individual. This variant has been previously described in multiple individuals with long QT syndrome and atrial fibrillation (PMID 15840476, 19716085, 17905336, 24144883, 25786344). In addition, experimental studies have shown that this variant result in altered biophysical properties of the KCNQ1 protein (PMID 19808498, 25786344). Therefore, we consider this variant to be likely pathogenic.
Invitae RCV000030111 SCV001224616 likely pathogenic Long QT syndrome 2019-10-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 302 of the KCNQ1 protein (p.Ala302Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with long QT syndrome (PMID: 17905336, 22456477, 24606995), atrial fibrillation (PMID: 25786344), Jervell and Lange-Nielsen syndrome (PMID: 27917693), or other KCNQ1-related disease (PMID: 15466642, 22677073). ClinVar contains an entry for this variant (Variation ID: 36439). This variant has been reported to affect KCNQ1 protein function (PMID: 19808498, 25786344). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000030111 SCV000052766 pathogenic Long QT syndrome 2015-04-03 no assertion criteria provided clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057792 SCV000089311 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:15466642;PMID:15840476;PMID:17905336;PMID:19716085;PMID:19808498). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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