ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1912G>T (p.Glu638Ter) (rs141117135)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181885 SCV000234188 pathogenic not provided 2014-07-15 criteria provided, single submitter clinical testing p.Glu978Stop (GAG>TAG): c.2932 G>T in exon 12 of the KCNH2 gene (NM_000238.2). The E978X mutation was reported in one of 50 Italian individuals with LQT2 enrolled in a study evaluating vagal reflexes following an exercise stress test (Crotti L et al., 2012). E978X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the KCNH2 gene have been reported in association with LQTS. In summary, E978X in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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