Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001061225 | SCV001225959 | uncertain significance | Brugada syndrome | 2022-03-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. ClinVar contains an entry for this variant (Variation ID: 855878). 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: "Benign"; Align-GVGD: "Class C0"). 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. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1087 of the CACNA2D1 protein (p.Thr1087Ile). |
| Ambry Genetics | RCV004031948 | SCV005036813 | uncertain significance | Cardiovascular phenotype | 2023-10-19 | criteria provided, single submitter | clinical testing | The p.T1087I variant (also known as c.3260C>T), located in coding exon 39 of the CACNA2D1 gene, results from a C to T substitution at nucleotide position 3260. The threonine at codon 1087 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |