Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuro |
RCV000585875 | SCV000693781 | likely pathogenic | Developmental and epileptic encephalopathy, 2 | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003767322 | SCV004579719 | uncertain significance | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-04-06 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDKL5 protein function. ClinVar contains an entry for this variant (Variation ID: 495246). This missense change has been observed in individual(s) with clinical features of CDKL5-related conditions (PMID: 31780880). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 206 of the CDKL5 protein (p.Asp206Tyr). |