ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1150dup (p.Val384fs) (rs794728433)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181971 SCV000234274 pathogenic not provided 2012-03-26 criteria provided, single submitter clinical testing The c.1150dupG pathogenic variant in the KCNH2 gene has not been reported previously, this variant causes a shift in reading frame starting at codon Valine 384, changing it to a Glycine, and creates a premature stop codon at position 4 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.

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