ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.559G>A (p.Gly187Ser) (rs120074184)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182137 SCV000234440 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing The G314S mutation in the KCNQ1 gene has been published multiple times in association with LQTS (Donger C et al., 1997; Itoh T et al., 1998; Jongbloed R et al., 1999; Hofman N et al., 2011). Donger et al. reported the G314S mutation in eight individuals in two unrelated French families, 6 of whom were symptomatic. The same study did not identify the G314S mutation in 200 control chromosomes (Donger et al., 1997). Similar studies reported the G314S mutation in multiple probands and family members (Itoh T et al., 1998; Jongbloed R et al., 1999; Hofman N et al., 2011). G314S was not observed in 1,488 reference alleles (Tester D et al., 2005) and G314S was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Other mutations at this residue (G314A, G314R, G314D, G314C) as well as in neighboring residues (I313M, Y315C, Y315F, Y315S) have been reported in association with LQTS, further supporting the functional role of this residue and this region of the protein. Furthermore, Hofman et al. reported the G314S mutation in 4 unrelated probands, where at least one occurred de novo, and therefore consider it a mutation hotspot. In summary, G314S in the KCNQ1 gene is interpreted as a disease-causing mutation.
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000003271 SCV000805122 pathogenic Long QT syndrome 1 2017-11-20 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852434 SCV000995119 pathogenic Long QT syndrome 2018-05-26 criteria provided, single submitter clinical testing
OMIM RCV000003271 SCV000023429 pathogenic Long QT syndrome 1 1996-09-01 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057810 SCV000089330 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:8872472;PMID:9386136;PMID:9693036;PMID:9799083;PMID:10220144;PMID:12566525;PMID:15028050;PMID:15051636;PMID:15840476;PMID:16038262;PMID:16922724;PMID:19348785;PMID:19716085;PMID:19841300;PMID:15234419;PMID:17470695). 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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