Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001361995 | SCV001557990 | uncertain significance | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-08-17 | criteria provided, single submitter | clinical testing | 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) performed at Invitae indicates that this missense variant is expected to disrupt CDKL5 protein function. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 80 of the CDKL5 protein (p.Arg80Cys). This variant is present in population databases (no rsID available, gnomAD 0.008%). This missense change has been observed in individual(s) with early-onset seizures (PMID: 30945278). ClinVar contains an entry for this variant (Variation ID: 1053624). 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. |