ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)

dbSNP: rs199472946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157265 SCV000206995 likely pathogenic Long QT syndrome 2015-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000182032 SCV000234335 pathogenic not provided 2019-04-12 criteria provided, single submitter clinical testing Observed in individuals with LQTS referred for genetic testing at Genedx and in the published literature (Kapplinger et al., 2009); Not observed in large population cohorts (Lek et al., 2016); Published functional studies demonstrate Y616C generated minimal current, suggesting altered channel permeability as a mechanism that leads to loss of function (Anderson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a likely pathogenic variant (ClinVar Variant ID 67295; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 19716085, 25417810)
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058013 SCV000089533 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). 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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