ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) (rs1805123)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171815 SCV000050826 benign Atrial fibrillation 2013-06-24 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000223864 SCV000303114 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249181 SCV000317416 benign Cardiovascular phenotype 2019-05-08 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV001095232 SCV000467511 benign Long QT syndrome 2 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223864 SCV000539426 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 2199/13006=16.9%
Athena Diagnostics Inc RCV000058152 SCV000842489 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281915 SCV000884046 benign none provided 2020-08-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771048 SCV000902552 benign Arrhythmia 2018-03-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000058152 SCV000987644 benign not provided criteria provided, single submitter clinical testing
Invitae RCV000276195 SCV001000058 benign Long QT syndrome 2020-12-05 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058152 SCV000089672 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:10807545;PMID:11997281;PMID:12402336;PMID:12829173;PMID:14661677;PMID:14760488;PMID:15599693;PMID:16116052;PMID:16132053;PMID:16487223;PMID:17161064;PMID:17210839;PMID:18060054;PMID:18222980;PMID:18808722;PMID:19841300).
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000223864 SCV000280125 benign not specified 2015-09-16 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. KCNH2 p.Lys897Thr Yang et al (2002) observed the p.Lys897Thr variant in KCNH2 in 20% of drug-induced long QT cases and controls. 12-24% of individuals in the general population have this variant. In different studies of genetic variants associated with QT length variability in the general population (i.e. not long QT syndrome) p.Lys897Thr has been associated with both prolongation (Pfeufer et al 2005, Paavonen et al 2003, Newton-Cheh et al 2007) and shortening (Laitinen et al 2000, Bezzina et al 2003, Marjamaa et al 2009) of the QT interval.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000223864 SCV001743774 benign not specified no assertion criteria provided clinical testing

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