ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.753_754TG[5] (p.Asp254fs) (rs63751035)

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 RCV000736248 SCV000864545 pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter clinical testing This result confirms the diagnosis of a GRN-related dementia. This 2-bp duplication in granulin exon 8 causes a frameshift and a premature STOP, 3 codons downstream. Although this specific sequence change has not been previously reported, several pathogenic frameshift mutations in GRN have been previously described in the literature1.

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.