ClinVar Miner

Submissions for variant NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) (rs36210421)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000172896 SCV000223887 likely benign Sudden unexplained death 2015-03-27 criteria provided, single submitter research The KCNH2 Arg1047Leu variant has previously been reported as a polymorphism and suggested to be associated with increased risk to Torsades de Pointes (Mank-Seymour AR et al., 2006; Sun Z et al., 2004; Kapa S et al., 2009). It is present in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) with an allele frequency of 0.008 (105/11944 alleles); and the frequency in the European (non-Finnish) sub-population is 0.02 (73/3656 alleles). We identified this variant in a 16 yo boy who had a sudden cardiac arrest with no pre-morbid diagnosis and Greek ethnicity. Post-mortem examination was unremarkable and there is no family history of any cardiac disease. Based on the frequency of the KCNH2 Arg1047Leu variant in 2% of the European (non-Finnish) population, we do not expect this variant to cause disease in isolation. We therefore classify this variant as "likely benign".
Ambry Genetics RCV000243613 SCV000317415 benign Cardiovascular phenotype 2015-06-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517346 SCV000613854 benign not specified 2017-06-14 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000171814 SCV000050825 benign Torsades de pointes 2013-06-24 criteria provided, single submitter research
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058202 SCV000089722 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:11468227;PMID:14661677;PMID:15522280;PMID:16487223;PMID:17161064;PMID:17210839;PMID:17275752;PMID:19841300).
Color RCV000771077 SCV000902611 benign Arrhythmia 2018-03-15 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203011 SCV000257647 uncertain significance Long QT syndrome 2 2015-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401763 SCV000467508 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030101 SCV000052756 likely benign Cardiac arrhythmia 2015-10-02 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000058202 SCV000696030 likely benign not provided 2016-02-22 criteria provided, single submitter clinical testing
Invitae RCV000401763 SCV000555899 benign Long QT syndrome 2018-01-22 criteria provided, single submitter clinical testing

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