Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuro |
RCV000170008 | SCV000693767 | likely pathogenic | Early infantile epileptic encephalopathy 2 | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001068312 | SCV001233417 | pathogenic | Early infantile epileptic encephalopathy 2; Angelman syndrome-like | 2019-02-11 | criteria provided, single submitter | clinical testing | 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with CDKL5-related disease (PMID: 19780792, 15689447). ClinVar contains an entry for this variant (Variation ID: 143779). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000170008 | SCV000032487 | pathogenic | Early infantile 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 | Early infantile epileptic encephalopathy 2 | 2014-03-13 | no assertion criteria provided | curation |