ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.258C>G (p.Tyr86Ter) (rs1085307470)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488952 SCV000576514 pathogenic not provided 2018-03-26 criteria provided, single submitter clinical testing The Y86X nonsense variant in the CDKL5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this pathogenic variant has not been reported previously to our knowledge, other nonsense variants in the CDKL5 gene have been reported in association with CDKL5-related disorders (Stenson et al., 2014). Therefore, the presence of Y86X is consistent with the diagnosis of a CDKL5-related disorder in this individual.

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