ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2068_2069delinsGGGTCTCCCG (p.Pro690fs) (rs1554424107)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657561 SCV000779298 pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing Although the c.3088_3089delCCins10 pathogenic variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon proline 1030, changing it to a glycine, and creating a premature stop codon at position 30 of the new reading frame, denoted p.Pro1030GlyfsX30. 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. Multiple other frameshift variants in the KCNH2 gene have been reported in the Human Gene Mutation Database in association with LQTS (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.3088_3089delCCins10 variant has not been observed in large population cohorts (Lek et al., 2016).

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