ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) (rs1555951146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579245 SCV000681153 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing The Y262X nonsense variant in the CDKL5 gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with the diagnosis of a CDKL5-related disorder in this individual.
Invitae RCV001047013 SCV001210942 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-03-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr262*) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 489166). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.

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