ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2038A>T (p.Lys680Ter) (rs1569220754)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760375 SCV000890238 likely pathogenic not provided 2018-11-13 criteria provided, single submitter clinical testing The K680X nonsense variant has been reported previously in association with a CDKL5-related disorder (Fehr et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the K680X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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