ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1847_1855del (p.Tyr616_Thr618del) (rs1554425762)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598765 SCV000710073 uncertain significance not specified 2017-10-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNH2 gene. The c.1847_1855delACTTCACCT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1847_1855delACTTCACCT variant is predicted to result in the in-frame deletion of three amino acids, denoted p.Tyr616_Thr618del. Pathogenic and likely pathogenic missense variants have been reported previously in these amino acid residues at GeneDx. Additionally, the c.1847_1855delACTTCACCT variant is not observed in large population cohorts (Lek et al., 2016). However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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