ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1293C>A (p.Phe431Leu) (rs199472900)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481749 SCV000569481 likely pathogenic not provided 2018-05-10 criteria provided, single submitter clinical testing The F431L variant that is likely pathogenic was identified in the KCNH2 gene. The F431L variant has been reported in at least one individual referred for LQTS testing (Kapplinger et al., 2009). Furthermore, this variant has been shown to segregate with disease in many affected relatives from a large family referred for LQTS testing at GeneDx. Additionally, the F431L variant is not observed in large population cohorts (Lek et al., 2016). Although, the F431L variant is a conservative amino acid substitution, in silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057890 SCV000089410 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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