Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky National Research Centre of Surgery, |
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. |
Gene |
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, |
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. |