ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1129-2A>G (rs794728365)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181781 SCV000234084 pathogenic not provided 2014-08-01 criteria provided, single submitter clinical testing c.1129-2 A>G: IVS5-2 A>G in intron 5 of the KCNH2 gene (NM_000238.2)The c.1129-2 A>G mutation in the KCNH2 gene has been reported previously in one individual with a diagnosis of LQTS, and was not reported in at least 400 control alleles (Splawski I et al., 2000). In addition, the c.1128-2 A>G mutation 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. This mutation destroys the canonical splice acceptor site in intron 5 and is predicted to cause abnormal gene splicing. Other splice site mutations in the KCNH2 gene have been reported in association with LQTS. In summary, c.1129-2 A>G in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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