Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001225504 | SCV001397786 | uncertain significance | Brugada syndrome 4 | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with alanine at codon 60 of the CACNB2 protein (p.Pro60Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV004032539 | SCV003737728 | uncertain significance | Cardiovascular phenotype | 2021-11-22 | criteria provided, single submitter | clinical testing | The c.178C>G (p.P60A) alteration is located in exon 3 (coding exon 3) of the CACNB2 gene. This alteration results from a C to G substitution at nucleotide position 178, causing the proline (P) at amino acid position 60 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |