Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000015322 | SCV000832815 | pathogenic | Frontotemporal dementia | 2024-01-27 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 279 of the MAPT protein (p.Asn279Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with frontotemporal dementia (PMID: 9789048, 10412802, 10489057, 10802785, 14568818, 22818528, 26295349, 27082848). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 14253). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MAPT protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000763404 | SCV000894131 | pathogenic | Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Progressive supranuclear ophthalmoplegia | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000084521 | SCV003823490 | pathogenic | not provided | 2021-11-19 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000015322 | SCV000035581 | pathogenic | Frontotemporal dementia | 2004-10-01 | no assertion criteria provided | literature only | |
| VIB Department of Molecular Genetics, |
RCV000084521 | SCV000116657 | not provided | not provided | no assertion provided | not provided |