ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1436del (p.Asn479fs) (rs794728446)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181984 SCV000234287 pathogenic not provided 2012-05-24 criteria provided, single submitter clinical testing Although the c.2456delA mutation in the KCNH2 gene has not been reported previously, this variant causes a shift in reading frame starting at codon Asparagine 819, changing it to a Threonine, and creating a premature stop codon at position 49 of the new reading frame. This variant is expected to result either in an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNH2 gene have been reported in association with LQTS. Therefore, c.2456delA in the KCNH2 gene is interpreted to be a pathogenic variant.
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000515716 SCV000611769 pathogenic Long QT syndrome 2 2017-07-04 criteria provided, single submitter clinical testing

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