ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.164C>A (p.Ser55Ter) (rs199472844)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484322 SCV000565772 likely pathogenic not provided 2016-04-29 criteria provided, single submitter clinical testing The S55X variant in the KCNH2 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. S55X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the KCNH2 gene have been reported in HGMD in association with LQTS (Stenson et al., 2014). Furthermore, the S55X pathogenic variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.While the S55X variant has not been published, it is expected to be pathogenic, as loss of function variants in this gene are strongly associated with this phenotype. Therefore, the presence of this variant indicates that this individual is likely at increased risk to develop LQTS. However, other genetic and environmental factors influence disease expression and severity, and some individuals with a likely pathogenic variant may never become symptomatic

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