ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1017+5G>A (rs1085307953)

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 RCV000489225 SCV000577725 likely pathogenic not provided 2015-06-12 criteria provided, single submitter clinical testing The c.1017+5G>A variant in the ATP1A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 8, and is expected to cause abnormal gene splicing. The c.1017+5G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We consider c.1017+5G>A to be a strong candidate for a pathogenic variant; however, the possibility that c.1017+5G>A may be a rare benign variant 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.