ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1676del (p.Leu559fs) (rs794728439)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181977 SCV000234280 pathogenic not provided 2012-05-11 criteria provided, single submitter clinical testing Although the c.1676delT variant in the KCNH2 gene has not been reported previously, this variant causes a shift in reading frame starting at codon Leucine 559, changing it to a Proline, and creating a premature stop codon at position 6 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.1676delT in the KCNH2 gene is interpreted to be a pathogenic variant.

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