ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5839+1G>T

dbSNP: rs951196653
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
GeneDx RCV000498318 SCV000590486 likely pathogenic not provided 2017-06-14 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the CACNA1A gene. The c.5842+1 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.5842+1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.5842+1 G>T splice site variant destroys the canonical splice donor site in intron 39. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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.