ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) (rs199472787)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454758 SCV000539461 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1-2 probands; ClinVar: 1 Pathogenic
Ambry Genetics RCV000622251 SCV000738004 uncertain significance Cardiovascular phenotype 2017-05-19 criteria provided, single submitter clinical testing The p.R519C variant (also known as c.1555C>T), located in coding exon 12 of the KCNQ1 gene, results from a C to T substitution at nucleotide position 1555. The arginine at codon 519 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration was reported once in a cohort of subjects with long QT syndrome (LQTS); however, clinical details were limited (Van Langen IM et al. J. Med. Genet., 2003 Feb;40:141-5). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics,Fulgent Genetics RCV000763729 SCV000894613 uncertain significance Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000777707 SCV000913650 uncertain significance Arrhythmia 2020-03-24 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057595 SCV000089114 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:12566525). 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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