ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1956T>A (p.Tyr652Ter) (rs1137617)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181832 SCV000234135 pathogenic not provided 2017-12-14 criteria provided, single submitter clinical testing p.Tyr652Stop (TAT>TAA): c.1956 T>A in exon 8 of the KCNH2 gene (NM_000238.2). The Tyr652Stop mutation in the KCNH2 gene has been reported in one family with LQTS (Sun Y et al., 2009). Tyr652Stop 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, Tyr652Stop in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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