ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.766C>T (p.Gln256Ter) (rs1555951142)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598966 SCV000709793 pathogenic not provided 2014-12-16 criteria provided, single submitter clinical testing The Q256X 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 variant has not been reported previously to our knowledge, other nonsense variant have been reported in the Human Gene Mutation Database in association with CDKL5-related disorders (Stenson et al., 2014). Therefore, the presence of Q256X is consistent with the diagnosis of a CDKL5-related disorder
CeGaT Praxis fuer Humangenetik Tuebingen RCV000598966 SCV001246515 pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing

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