ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.469+5G>T

dbSNP: rs760212654
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 RCV000479739 SCV000567780 pathogenic not provided 2015-08-17 criteria provided, single submitter clinical testing he c.469+5G>T variant in the FRAS1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This substitution destroys the splice donor site in intron 5, and is expected to cause abnormal gene splicing. The c.469+5G>T variant was not observed in approximately 6100 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 interpret c.469+5G>T as a pathogenic variant.

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.