ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1999-10G>T

dbSNP: rs63749974
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
CeGaT Center for Human Genetics Tuebingen RCV000084520 SCV002822403 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing Criteria applied: PP1:Strong, PM2, PP4:Moderate, PS4:Moderate
Invitae RCV002513906 SCV003442395 pathogenic Frontotemporal dementia 2022-07-29 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the MAPT gene. It does not directly change the encoded amino acid sequence of the MAPT protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with frontotemporal dementia (PMID: 16503405, 34274155; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 98212). Studies have shown that this variant is associated with altered splicing resulting in increase of 4R-tau to 3R-tau ratio (PMID: 16503405, 34274155). Other variant(s) that result in increase of 4R-tau to 3R-tau ratio have been determined to be pathogenic (PMID: 9641683, 26297556). This suggests that this variant may also be clinically significant and likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
VIB Department of Molecular Genetics, University of Antwerp RCV000084520 SCV000116656 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.