ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val)

dbSNP: rs533892755
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.
PreventionGenetics, part of Exact Sciences 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.