Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001048359 | SCV001212360 | uncertain significance | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-07-07 | 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 expected to disrupt CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 845317). This missense change has been observed in individual(s) with idiopathic epilepsy (PMID: 21703448). This variant is present in population databases (rs755107633, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 477 of the CACNA1A protein (p.Arg477His). |
| Gene |
RCV001570122 | SCV001794343 | likely benign | not provided | 2019-05-17 | criteria provided, single submitter | clinical testing | Reported as a novel variant in a cohort of epilepsy patients; additional information was not provided (Klassen et al., 2011); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28488083, 21703448) |
| Athena Diagnostics Inc | RCV001570122 | SCV002770831 | uncertain significance | not provided | 2022-03-31 | criteria provided, single submitter | clinical testing |