Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080070 | SCV000111965 | uncertain significance | not provided | 2013-08-27 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000145536 | SCV000192625 | uncertain significance | Developmental and epileptic encephalopathy, 2 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001370652 | SCV001567176 | uncertain significance | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-02-21 | 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) performed at Invitae indicates that this missense variant is not expected to disrupt CDKL5 protein function. ClinVar contains an entry for this variant (Variation ID: 94109). This variant has not been reported in the literature in individuals affected with CDKL5-related conditions. This variant is present in population databases (rs398123694, gnomAD 0.005%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 885 of the CDKL5 protein (p.Gly885Arg). |
Ambry Genetics | RCV002514406 | SCV003642185 | uncertain significance | Inborn genetic diseases | 2022-09-06 | criteria provided, single submitter | clinical testing | The c.2653G>A (p.G885R) alteration is located in exon 18 (coding exon 17) of the CDKL5 gene. This alteration results from a G to A substitution at nucleotide position 2653, causing the glycine (G) at amino acid position 885 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |