ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1606G>T (p.Glu536Ter) (rs1554424688)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578653 SCV000680527 pathogenic not provided 2016-09-09 criteria provided, single submitter clinical testing The E876X pathogenic variant in the KCNH2 gene has been reported in one individual diagnosed with LQTS and was absent from >1,500 reference alleles (Tester et al., 2015). E876X 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 E876X 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.

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