ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1399del (p.Glu467fs) (rs794728445)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181983 SCV000234286 pathogenic not provided 2012-06-12 criteria provided, single submitter clinical testing The c.2419delG variant in the KCNH2 gene has been reported in association with LQTS (Kapplinger J et al., 2009) . This variant causes a shift in reading frame starting at codon Glu807, changing it to a Serine, and creating a premature stop codon at position 3 of the new reading frame, denoted p.Glu807SerfsX3. This variant 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 variants in the KCNH2 gene have been reported in association with LQTS. In summary, c.2419delG in the KCNH2 gene is interpreted as a pathogenic variant.

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