ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1777dup (p.Ser593fs) (rs794728461)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181999 SCV000234302 pathogenic not provided 2012-12-12 criteria provided, single submitter clinical testing Although the 1220819 variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Serine 933, changing it to a Lysine, and creating a premature stop codon at position 7 of the new reading frame, denoted p.Ser933LysfsX7. This variant is expected to result in either 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. In summary, c.2797dupA in the KCNH2 gene is interpreted as a pathogenic variant.

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