ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1872del (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 RCV000482977 SCV000565059 pathogenic not provided 2017-02-10 criteria provided, single submitter clinical testing The c.2892delC pathogenic variant in the KCNH2 gene has previously been reported in association with LQTS (Kapplinger et al., 2009). This variant causes a shift in reading frame starting at codon Glycine 965, changing it to a Glutamic acid, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Gly965GlufsX9. This pathogenic 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 downstream frameshift variants in the KCNH2 gene have been reported in Human Gene Mutation Database in association with LQTS (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.2892delC variant has not been observed at a significant frequency in Exome Aggregation Consortium (ExAC) (Lek et al., 2016).

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