Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480891 | SCV000566103 | uncertain significance | not provided | 2015-04-01 | criteria provided, single submitter | clinical testing | The A317V variant in the CACNA1C gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The A317V variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A317V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A317V as a variant of unknown significance. |
Ambry Genetics | RCV002374886 | SCV002688418 | uncertain significance | Cardiovascular phenotype | 2020-03-06 | criteria provided, single submitter | clinical testing | The p.A317V variant (also known as c.950C>T), located in coding exon 7 of the CACNA1C gene, results from a C to T substitution at nucleotide position 950. The alanine at codon 317 is replaced by valine, an amino acid with similar properties. This amino acid position is highly 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. |
Prevention |
RCV003419790 | SCV004109226 | uncertain significance | CACNA1C-related disorder | 2023-06-28 | criteria provided, single submitter | clinical testing | The CACNA1C c.950C>T variant is predicted to result in the amino acid substitution p.Ala317Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-2602389-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |