ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2185G>A (p.Val729Met) (rs63750570)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000015321 SCV001201306 pathogenic Frontotemporal dementia 2019-12-22 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 337 of the MAPT protein (p.Val337Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with frontotemporal dementia (PMID: 9629852, 28130473). It has also been observed to segregate with disease in related individuals. This variant is also known as Val279Met in the literature. ClinVar contains an entry for this variant (Variation ID: 14252). This variant has been reported to affect MAPT protein function (PMID: 20377816, 11756496). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015321 SCV000035580 pathogenic Frontotemporal dementia 2001-03-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084548 SCV000116684 not provided not provided no assertion provided not provided

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.