ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.244_252dup (p.Ile82_Gln84dup) (rs794728476)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182016 SCV000234319 pathogenic Cardiac arrhythmia 2013-12-23 criteria provided, single submitter clinical testing c.244_252dupATCGCGCAG: p.Ile82_Gln84dup (I82_Q84dup) in exon 2 of the KCNH2 gene (NM_000238.2). The c.244_252dupATCGCGCAG mutation in the KCNH2 gene has been reported in a single individual with LQTS and was not observed in 100 controls (Larsen L et al., 2001) . Other in-frame duplications have been reported in the KCNH2 gene in association with LQTS. In summary, c.244_252dupATCGCGCAG in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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