ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002722677 SCV003559072 uncertain significance Inborn genetic diseases 2022-03-28 criteria provided, single submitter clinical testing The c.2686G>A (p.G896R) alteration is located in exon 19 (coding exon 19) of the CACNA1A gene. This alteration results from a G to A substitution at nucleotide position 2686, causing the glycine (G) at amino acid position 896 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003222465 SCV003918078 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing CACNA1A: PM2, PP2, PP3

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.