ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg)

dbSNP: rs1555738200
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
Athena Diagnostics RCV000516775 SCV000612551 likely pathogenic not provided 2022-10-18 criteria provided, single submitter clinical testing This variant appears to segregate with episodic ataxia in a family tested at Athena Diagnostics, however, the available information does not rule out segregation due to chance. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging.

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.