ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.826del (p.Cys276fs) (rs794728422)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181960 SCV000234263 pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing The c.826delT mutation in the KCNH2 gene has been previously identified in a 29 year-old female autopsy-negative, sudden unexplained death (SUD) case and was absent from 2600 reference alleles (Tester D et al., 2012). This mutation causes a shift in reading frame starting at codon Cysteine 276, changing it to an Alanine, and creating a premature stop codon at position 84 of the new reading frame, denoted p.Cys276AlafsX84. 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. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS.

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