Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001052081 | SCV001216272 | uncertain significance | Brugada syndrome | 2022-03-18 | criteria provided, single submitter | clinical testing | 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: "Possibly Damaging"; 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. ClinVar contains an entry for this variant (Variation ID: 848345). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 591 of the CACNA2D1 protein (p.Thr591Ile). This variant is present in population databases (rs773781850, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. |
| Ambry Genetics | RCV002400299 | SCV002714768 | uncertain significance | Cardiovascular phenotype | 2020-10-14 | criteria provided, single submitter | clinical testing | The p.T591I variant (also known as c.1772C>T), located in coding exon 21 of the CACNA2D1 gene, results from a C to T substitution at nucleotide position 1772. The threonine at codon 591 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |