ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1872dup (p.Gly625fs) (rs794728462)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182000 SCV000234303 pathogenic not provided 2012-05-07 criteria provided, single submitter clinical testing The c.2892dupC variant in the KCNH2 gene has been reported previously in association with LQTS (Kapplinger J et al., 2009). This variant causes a shift in reading frame starting at codon Glycine 965, changing it to an Arginine, and creating a premature stop codon at position 153 of the new reading frame. This variant is expected to result either in an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNH2 gene have been reported in association with LQTS. Therefore, c.2892dupC in the KCNH2 gene is interpreted to be a pathogenic variant.

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