ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg)

dbSNP: rs120074181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV003159095 SCV003852646 pathogenic Long QT syndrome 1 2022-11-03 criteria provided, single submitter clinical testing We observed a c.916G>C (p.Gly306Arg) genetic variant in the KCNQ1 gene on WES data in a 11-y.o. male proband, manifested with syncope during swimming and QTc prolongation up to 475 ms. This variant is not present in gnomAD database and located in a mutational hot spot and/or critical and well-established functional domain (PM1_strong according to Walsh R. et al. (PMID: 32893267). Multiple computational resources predict deleterious effect of p.Gly306Arg genetic variant. An alternative genetic variant c.916G>A (p.Gly306Arg) has been reported as pathogenic and associated with Long QT syndrome. Based on this evidence, we consider it to classify the c.916G>C (p.Gly306Arg) variant as Pathogenic.
GeneDx RCV003317071 SCV004021652 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing Published functional studies demonstrate a dominant negative effect (Li et al., 2001; Wang et al., 1999); Not observed at significant frequency in large population cohorts (gnomAD); Identified in patients with LQTS in published literature; however, detailed clinical information was not provided (Andrsova et al., 2012; Zareba et al., 2003; Moss et al., 2007; Jons et al., 2009; Kapplinger et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19716085, 22456477, 15234419, 17470695, 19490272, 22727609, 32431610, 11351021, 10376919, 14678125)
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000057798 SCV000089317 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:19716085;PMID:10376919;PMID:11351021). 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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