Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000547039 | SCV000656772 | pathogenic | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2022-06-13 | 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 CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 476264). This missense change has been observed in individual(s) with generalized epilepsy with typical absence seizures (PMID: 26795593). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1755 of the CACNA1A protein (p.Gly1755Arg). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000622365 | SCV000740928 | likely pathogenic | Inborn genetic diseases | 2015-06-16 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001731780 | SCV001983926 | likely pathogenic | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | Reported in a patient with a developmental disorder in published literature (Lecoquierre et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26795593, 28330790, 31036916) |