ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.697G>T (p.Glu233Ter) (rs1569215664)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760875 SCV000890771 pathogenic not provided 2018-11-26 criteria provided, single submitter clinical testing The E233X variant in the CDKL5 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The E233X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, this variant is confirmed to have occurred de novo in an individual with infantile spasms and developmental delay previously tested at GeneDx. We interpret E233X as a pathogenic variant.

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