Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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). |
Ce |
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. |
Rett |
RCV000169916 | SCV000188336 | pathogenic | Atypical Rett syndrome | 2014-03-13 | no assertion criteria provided | curation | |
Rett |
RCV000170009 | SCV000222315 | pathogenic | Early infantile epileptic encephalopathy 2 | 2014-03-13 | no assertion criteria provided | curation |