Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002401621 | SCV002711690 | uncertain significance | Cardiovascular phenotype | 2021-03-31 | criteria provided, single submitter | clinical testing | The c.1758_1762dupAGTGA variant, located in coding exon 13 of the CACNB2 gene, results from a duplication of AGTGA at nucleotide position 1758, causing a translational frameshift with a predicted alternate stop codon (p.I588Kfs*2). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of CACNB2 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003509754 | SCV004280531 | uncertain significance | Brugada syndrome 4 | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile588Lysfs*2) in the CACNB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the CACNB2 protein. This variant is not present in population databases (gnomAD no frequency). 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: 1779499). 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. |