ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) (rs267608472)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133368 SCV000190950 pathogenic not provided 2018-10-10 criteria provided, single submitter clinical testing The R134X nonsense variant in the CDKL5 gene has been previously reported in association with CDKL5-related disorders (Rademacher et al., 2011; Fehr et al., 2015). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R134X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, R134X is considered a pathogenic variant, and its presence is consistent with a CDKL5-related disorder in this individual.
RettBASE RCV000169919 SCV000188382 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation

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