ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1886del (p.Gly629fs) (rs794728459)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181997 SCV000234300 pathogenic not provided 2017-02-27 criteria provided, single submitter clinical testing The c.2906delG pathogenic variant in the KCNH2 gene has been reported in association with LQTS (reported as del2906 or Pro968fs/4 using alternative nomenclature) and was not present in >400 control chromosomes (Splawski et al., 2000). This variant causes a shift in reading frame starting at codon Glycine 969, changing it to a Valine, and creating a premature stop codon at position 5 of the new reading frame, denoted p.Gly969ValfsX5. 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 frameshift variants in the KCNH2 gene have been reported in Human Genome Mutation Database in association with LQTS (Stenson et al., 2014). Furthermore, the c.2906delG variant is not observed in large population cohorts (Lek et al., 2016; Exome Variant Server).

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