ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1316del (p.Gly439fs) (rs794728435)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181973 SCV000234276 pathogenic not provided 2013-11-20 criteria provided, single submitter clinical testing The c.1316delG mutation in the KCNH2 gene has been reported in one individual referred for LQTS testing and was not present in >2600 control alleles in this study (Kapplinger J et al, 2009). This mutation causes a shift in reading frame starting at codon Glycine 439, changing it to a Alanine, and creating a premature stop codon at position 82 of the new reading frame, denoted p.Gly439AlafsX82. 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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