ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2395del (p.Leu799fs) (rs794728444)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181982 SCV000234285 pathogenic not provided 2015-06-29 criteria provided, single submitter clinical testing The c.2395delC mutation in the KCNH2 gene has been reported previously in association with LQTS (Splawski I et al., 2000; Tester D et al., 2005). This mutation causes a shift in reading frame starting at codon Leucine 799, changing it to a Tryptophan, and creating a premature stop codon at position 11 of the new reading frame. This mutation 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 mutations in the KCNH2 gene have been reported in association with LQTS. In summary, c.2395delC in the KCNH2 gene is interpreted as a disease-causing mutation.

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