Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002372024 | SCV002683962 | uncertain significance | Cardiovascular phenotype | 2023-11-17 | criteria provided, single submitter | clinical testing | The c.894G>A variant (also known as p.A298A), located in coding exon 10 of the CACNB2 gene, results from a G to A substitution at nucleotide position 894. This nucleotide substitution does not change the alanine at codon 298. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Invitae | RCV003621507 | SCV004470100 | uncertain significance | Brugada syndrome 4 | 2023-02-10 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs730880058, gnomAD 0.01%). This sequence change affects codon 298 of the CACNB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNB2 protein. This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 180289). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
| Blueprint Genetics | RCV000157130 | SCV000206853 | uncertain significance | Ventricular fibrillation | 2014-08-01 | no assertion criteria provided | clinical testing |