ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2104C>T (p.Gln702Ter) (rs794728382)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181835 SCV000234138 pathogenic not provided 2012-08-19 criteria provided, single submitter clinical testing p.Gln702Stop (CAG>TAG):c.2104 C>T in exon 8 of the KCNH2 gene (NM_000238.2)The Gln702Stop mutation in the KCNH2 gene has not been reported previously as a disease-causing mutation or as benign polymorphism, to our knowledge. Gln702Stop is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the KCNH2 gene (Trp705Stop, Gln725Stop) have been reported in association with LQTS. In summary, Gln702Stop in the KCNH2 gene is interpreted to be a disease-causing mutation. The variant is found in LQT panel(s).
Fulgent Genetics,Fulgent Genetics RCV000763170 SCV000893759 pathogenic Short QT syndrome 1; Long QT syndrome 2 2018-10-31 criteria provided, single submitter clinical testing

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