ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1140-1G>A (rs1555686594)

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 RCV000518874 SCV000617968 pathogenic not provided 2017-08-09 criteria provided, single submitter clinical testing The c.1140-1 G>A splice site variant in the SMAD4 gene has been previously reported in associationwith juvenile polyposis syndrome (Kager et al., 2014). This pathogenic variant destroys the canonicalsplice acceptor site in intron 9, and is expected to cause abnormal gene splicing. Additionally, thevariant was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations.

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.