ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2891C>A (p.Pro964His)

gnomAD frequency: 0.00001  dbSNP: rs1161926847
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318139 SCV000851314 uncertain significance Inborn genetic diseases 2016-10-20 criteria provided, single submitter clinical testing The p.P965H variant (also known as c.2894C>A), located in coding exon 19 of the CACNA1A gene, results from a C to A substitution at nucleotide position 2894. The proline at codon 965 is replaced by histidine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 3203 samples (6406 alleles) with coverage at this position. This amino acid position is not 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.

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.