ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1742C>A (p.Ser581Ter) (rs794728483)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182028 SCV000234331 pathogenic not provided 2011-11-16 criteria provided, single submitter clinical testing The Ser581Stop mutation in the KCNH2 gene has been reported previously in one individual diagnosed with LQTS and absent from 2,600 control alleles. This mutation is predicted to cause loss of normal protein function either due to production of an abnormal, prematurely truncated protein, or by absence of protein product due to nonsense mediated mRNA decay. Multiple nonsense mutations in the KCNH2 gene have been reported previously in association with LQTS. The variant is found in LQT panel(s).

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