ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) (rs1567886445)

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
Human Genetics Group at Institute of Prion Diseases London,University College London RCV000736247 SCV000864544 pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter research Not an artifact. Frameshift mutation relatively early in the gene. Loss of function and haploinsufficiency known disease mechanism in GRN

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.