Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001958010 | SCV002208422 | uncertain significance | Brugada syndrome | 2021-04-29 | 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CACNA2D1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 1071 of the CACNA2D1 protein (p.Tyr1071His). The tyrosine residue is weakly conserved and there is a moderate physicochemical difference between tyrosine and histidine. |
| Ambry Genetics | RCV002324376 | SCV002609381 | uncertain significance | Cardiovascular phenotype | 2019-10-29 | criteria provided, single submitter | clinical testing | The p.Y1071H variant (also known as c.3211T>C), located in coding exon 39 of the CACNA2D1 gene, results from a T to C substitution at nucleotide position 3211. The tyrosine at codon 1071 is replaced by histidine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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. |