ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1837del (p.Leu613fs) (rs794728503)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182062 SCV000234365 not provided not provided no assertion provided clinical testing The c.2857delC variant in the KCNH2 gene causes a shift in reading frame at codon Leucine 953, changing it to a Serine, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Leu953SerfsX21. Although this variant has not been reported previously to our knowledge, it is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay, and therefore is interpreted to be a pathogenic variant.

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