Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211170 | SCV001382695 | uncertain significance | Brugada syndrome 4 | 2022-03-18 | 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 941390). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 269 of the CACNB2 protein (p.Ala269Ser). |
Ambry Genetics | RCV004033811 | SCV003886280 | uncertain significance | Cardiovascular phenotype | 2024-03-10 | criteria provided, single submitter | clinical testing | The p.A269S variant (also known as c.805G>T), located in coding exon 9 of the CACNB2 gene, results from a G to T substitution at nucleotide position 805. The alanine at codon 269 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |