ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1748del (p.Pro583fs) (rs794728454)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181992 SCV000234295 pathogenic not provided 2013-02-25 criteria provided, single submitter clinical testing The c.2768delC mutation in the KCNH2 gene has been reported in one individual with congenital LQTS and was absent from 100 control chromosomes in this study (Lai LP et al., 2005). In addition, functional studies showed reduced KCNH2 current when compared to the wild-type KCNH2 channel (Hsueh CH et al., 2008). This mutation causes a shift in reading frame starting at codon Proline 923, changing it to an Arginine, and creating a premature stop codon at position 51 of the new reading frame, denoted p.Pro923ArgfsX51. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Numerous other frameshift mutations in the KCNH2 gene have been reported in association with LQTS.

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