ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1673-2A>T (rs794728394)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181870 SCV000234173 pathogenic not provided 2013-01-17 criteria provided, single submitter clinical testing c.2693-2 A>T: IVS11-2 A>T in intron 11 of the KCNH2 (aka HERG) gene (NM_000238.2)Although the c.2693-2 A>T mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice acceptor site in intron 11 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the KCNH2 gene have been reported in association with LQTS. In summary, c.2693-2 A>T in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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