ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2091+19C>G

gnomAD frequency: 0.00001  dbSNP: rs63750162
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000084538 SCV000842705 likely pathogenic not provided 2018-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000084538 SCV005421320 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Nucleotide is not conserved across species and the substitution has no predicted effect on splicing; This variant is associated with the following publications: (PMID: 19914360, 30793898, 12615641, 37563653, 31031559)
Labcorp Genetics (formerly Invitae), Labcorp RCV005089560 SCV005767076 uncertain significance Frontotemporal dementia 2024-05-16 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the MAPT gene. It does not directly change the encoded amino acid sequence of the MAPT protein. This variant is present in population databases (rs63750162, gnomAD 0.01%). This variant has been observed in individual(s) with frontotemporal dementia (PMID: 12615641, 19884572). ClinVar contains an entry for this variant (Variation ID: 98223). Studies have shown that this variant is associated with inconclusive levels of altered splicing (PMID: 12615641, 19914360, 30793898). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
VIB Department of Molecular Genetics, University of Antwerp RCV000084538 SCV000116674 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.