Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036310 | SCV001199665 | uncertain significance | Brugada syndrome 4 | 2023-04-24 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 835428). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs775467558, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg560*) in the CACNB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the CACNB2 protein. |
Ai |
RCV002223968 | SCV002503014 | uncertain significance | not provided | 2021-11-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002400217 | SCV002710974 | uncertain significance | Cardiovascular phenotype | 2021-05-05 | criteria provided, single submitter | clinical testing | The p.R560* variant (also known as c.1678C>T), located in coding exon 13 of the CACNB2 gene, results from a C to T substitution at nucleotide position 1678. This changes the amino acid from an arginine to a stop codon within coding exon 13. Premature stop codons are typically deleterious in nature; however, this alteration occurs at the 3' terminus of theCACNB2 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 47 amino acids of the protein. Additionally, loss of function of CACNB2 has not been clearly established as a mechanism of disease. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |