ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1495G>A (p.Gly499Ser) (rs199472821)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182325 SCV000234628 uncertain significance not provided 2018-04-30 criteria provided, single submitter clinical testing The G626S variant of uncertain significance in the KCNQ1 gene has previously been reported in individuals referred for LQTS genetic testing, although no specific clinical information was provided (Tester et al., 2005; Kapplinger et al., 2009). This variant was also identified in one French infant with sudden infant death syndrome, as well as in this patient's asymptomatic mother (Millat et al., 2006; Millat et al., 2009). The G626S variant is not observed in large population cohorts (Lek et al., 2016). The G626S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Ambry Genetics RCV000620378 SCV000737763 uncertain significance Cardiovascular phenotype 2016-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000755677 SCV000883085 pathogenic Long QT syndrome 1 2018-11-21 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057647 SCV000089166 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:15840476;PMID:16922724;PMID:19716085). 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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