ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6303+1G>A

dbSNP: rs1600088360
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826158 SCV000967694 likely pathogenic Episodic ataxia type 2 2018-03-01 criteria provided, single submitter clinical testing The c.6321+1G>A variant in CACNA1A has not been previously reported in individua ls with episodic ataxia type 2 or in large population studies. This variant occu rs in the invariant region (+/- 1,2) of the splice consensus sequence and is pre dicted to cause altered splicing leading to an abnormal or absent protein. Heter ozygous loss of function of the CACNA1A gene is an established disease mechanism in individuals with episodic ataxia type 2. In summary, although additional stu dies are required to fully establish its clinical significance, the c.6321+1G>A variant is likely pathogenic. ACMG/AMP Criteria applied (Richards 2015): PVS1_St rong; PM2; 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.