Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413039 | SCV000491649 | pathogenic | not provided | 2019-06-13 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000807507 | SCV000947563 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2018-08-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). This variant has not been reported in the literature in individuals with CDKL5-related disease. ClinVar contains an entry for this variant (Variation ID: 373086). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln336*) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. |