Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000821321 | SCV000962075 | uncertain significance | Brugada syndrome | 2020-09-30 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CACNA2D1-related disease. This variant is present in population databases (rs372164615, ExAC 0.003%). This sequence change affects codon 247 of the CACNA2D1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA2D1 protein. |
| Ambry Genetics | RCV003372884 | SCV004093337 | uncertain significance | Cardiovascular phenotype | 2023-06-21 | criteria provided, single submitter | clinical testing | The c.741A>T variant (also known as p.G247G), located in coding exon 9 of the CACNA2D1 gene, results from an A to T substitution at nucleotide position 741. This nucleotide substitution does not change the glycine at codon 247. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |