Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuro |
RCV000170008 | SCV000693767 | likely pathogenic | Developmental and epileptic encephalopathy, 2 | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001068312 | SCV001233417 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 143779). This premature translational stop signal has been observed in individuals with CDKL5-related disease (PMID: 15689447, 19780792). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu55Argfs*20) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). |
Kasturba Medical College, |
RCV000170008 | SCV002033784 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2021-01-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000170008 | SCV000032487 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2005-02-01 | no assertion criteria provided | literature only | |
Rett |
RCV000133326 | SCV000188335 | pathogenic | Atypical Rett syndrome | 2014-03-13 | no assertion criteria provided | curation | |
Rett |
RCV000170008 | SCV000222314 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | |
Pediatric Department, |
RCV000170008 | SCV004032229 | pathogenic | Developmental and epileptic encephalopathy, 2 | no assertion criteria provided | research |