ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1193G>A (p.Trp398Ter) (rs794728366)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181782 SCV000234085 pathogenic not provided 2016-01-13 criteria provided, single submitter clinical testing The W398X mutation in the KCNH2 gene has been reported as a disease-causing mutation in one proband from a cohort of 2,500 unrelated LQTS referral cases in a clinical laboratory, and was absent in over 2,600 reference alleles (Kapplinger JD et al.,2009). W398X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the KCNH2 gene have been reported in association with LQTS. In summary, W398X in the KCNH2 gene is interpreted as a disease-causing mutation.

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