Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483546 | SCV000566078 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | Identified in a patient who experienced sudden cardiac arrest in published literature (Asatryan et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 30975432) |
Invitae | RCV001217779 | SCV001389631 | uncertain significance | Brugada syndrome 4 | 2023-08-03 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs754596850, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 83 of the CACNB2 protein (p.Gly83Asp). This missense change has been observed in individual(s) with clinical features of CACNB2-related conditions (PMID: 30975432). 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 CACNB2 protein function. ClinVar contains an entry for this variant (Variation ID: 418769). This variant is also known as c.410G>A (p.Gly137Asp). |
Ambry Genetics | RCV002431394 | SCV002741796 | uncertain significance | Cardiovascular phenotype | 2023-11-21 | criteria provided, single submitter | clinical testing | The p.G83D variant (also known as c.248G>A), located in coding exon 3 of the CACNB2 gene, results from a G to A substitution at nucleotide position 248. The glycine at codon 83 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV001217779 | SCV002813458 | uncertain significance | Brugada syndrome 4 | 2021-11-15 | criteria provided, single submitter | clinical testing |