ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) (rs267608643)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133327 SCV000191065 pathogenic not provided 2018-05-17 criteria provided, single submitter clinical testing The R550X nonsense variant in the CDKL5 gene has been reported previously in association with atypical Rett syndrome and CDKL5-related disorders (Pintaudi et al., 2008; Rademacher et al., 2011; Bahi-Buisson et al., 2012). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R550X variant is not observed in large population cohorts (Lek et al., 2016). The variant is found in EPILEPSY panel(s).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000133327 SCV001246518 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Invitae RCV001244788 SCV001418032 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg550*) 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 been observed in several individuals affected with CDKL5-related conditions (PMID: 18063413, 21318334, 22678952). ClinVar contains an entry for this variant (Variation ID: 143780). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000169916 SCV000188336 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation
RettBASE RCV000170009 SCV000222315 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation

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