Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000697968 | SCV000826604 | uncertain significance | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2022-07-26 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1112 of the CACNA1A protein (p.Ala1112Ser). ClinVar contains an entry for this variant (Variation ID: 575678). 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 CACNA1A protein function. |
| Ambry Genetics | RCV002325402 | SCV002605591 | uncertain significance | Inborn genetic diseases | 2018-07-19 | criteria provided, single submitter | clinical testing | The p.A1112S variant (also known as c.3334G>T), located in coding exon 20 of the CACNA1A gene, results from a G to T substitution at nucleotide position 3334. The alanine at codon 1112 is replaced by serine, an amino acid with similar properties. This amino acid position is not conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |