Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001872128 | SCV002126136 | uncertain significance | Brugada syndrome 4 | 2022-07-26 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1358931). This variant is present in population databases (rs548428286, gnomAD 0.008%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 551 of the CACNB2 protein (p.Ser551Cys). |
| Ambry Genetics | RCV002397793 | SCV002704680 | uncertain significance | Cardiovascular phenotype | 2023-08-25 | criteria provided, single submitter | clinical testing | The p.S551C variant (also known as c.1652C>G), located in coding exon 13 of the CACNB2 gene, results from a C to G substitution at nucleotide position 1652. The serine at codon 551 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |