ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1726C>T (p.Gln576Ter) (rs759081373)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482091 SCV000567028 pathogenic not provided 2015-06-23 criteria provided, single submitter clinical testing Although the Q576X variant in the KNCH2 gene has not been reported as a pathogenic variant oras a benign polymorphism to our knowledge, Q576X is predicted to cause loss of normal protein functioneither by protein truncation or nonsense-mediated mRNA decay. Multiple other nonsense variants in theKCNH2 gene have been reported in HGMD in association with LQTS (Stenson P et al., 2014).Furthermore, the Q756X variant was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. In summary, Q576X in the KCNH2 gene is interpreted as a pathogenic variant.

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