ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.31C>T (p.Gln11Ter) (rs794728416)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181951 SCV000234254 pathogenic not provided 2012-02-15 criteria provided, single submitter clinical testing The Gln11Stop mutation in the KCNH2 gene has not been previously reported as a disease-causing mutation, it 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. Other nonsense mutations in the N-terminus (Cys39Stop, Cys44Stop) of the KCNH2 gene have been reported in association with LQTS. The variant is found in LQT panel(s).

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