ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2231dup (p.Pro746fs) (rs794728473)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182013 SCV000234316 pathogenic not provided 2017-01-05 criteria provided, single submitter clinical testing Although the c.3251dupC pathogenic variant in the KCNH2 gene has not been reported to our knowledge, this pathogenic variant causes a shift in reading frame starting at codon Proline 1086, changing it to an Alanine, and creating a premature stop codon at position 33 of the new reading frame, denoted p.Pro1086AlafsX33. This pathogenic 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 pathogenic variants in the KCNH2 gene have been reported in association with LQTS. In summary, c.3251dupC in the KCNH2 gene is interpreted as a pathogenic variant.

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