Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001895646 | SCV002155474 | uncertain significance | Brugada syndrome 4 | 2021-12-01 | 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. 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 C0"). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 561 of the CACNB2 protein (p.Glu561Ala). |
| Ambry Genetics | RCV003303294 | SCV003993272 | uncertain significance | Cardiovascular phenotype | 2023-04-07 | criteria provided, single submitter | clinical testing | The p.E561A variant (also known as c.1682A>C), located in coding exon 13 of the CACNB2 gene, results from an A to C substitution at nucleotide position 1682. The glutamic acid at codon 561 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |