Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002632947 | SCV003511088 | uncertain significance | Brugada syndrome 4 | 2022-03-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs769096823, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Tyr603*) in the CACNB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the CACNB2 protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV003377902 | SCV004097316 | uncertain significance | Cardiovascular phenotype | 2023-06-23 | criteria provided, single submitter | clinical testing | The c.1798_1808dup11 variant, located in coding exon 13 of the CACNB2 gene, results from a duplication of AGGGATGTTTA at nucleotide position 1798, causing a translational frameshift with a predicted alternate stop codon (p.Y603*). This alteration occurs at the 3' terminus of theCACNB2 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 4 amino acids of the protein. The exact functional effect of this alteration is unknown. Furthermore, loss of function of CACNB2 has not been established as a mechanism of disease. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |