Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000084520 | SCV002822403 | pathogenic | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | MAPT: PP1:Strong, PM2, PP4:Moderate, PS4:Moderate |
Invitae | RCV002513906 | SCV003442395 | pathogenic | Frontotemporal dementia | 2022-07-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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 has been observed in individuals with frontotemporal dementia (PMID: 16503405, 34274155; Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. 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. Studies have shown that this variant is associated with altered splicing resulting in increase of 4R-tau to 3R-tau ratio (PMID: 16503405, 34274155). ClinVar contains an entry for this variant (Variation ID: 98212). |
VIB Department of Molecular Genetics, |
RCV000084520 | SCV000116656 | not provided | not provided | no assertion provided | not provided |