Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000015336 | SCV001140676 | pathogenic | Frontotemporal dementia | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000015336 | SCV004298243 | pathogenic | Frontotemporal dementia | 2023-09-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 14266). This missense change has been observed in individuals with frontotemporal dementia (PMID: 12509859, 22818528, 29253099, 33006106). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 266 of the MAPT protein (p.Leu266Val). |
OMIM | RCV000015336 | SCV000035595 | pathogenic | Frontotemporal dementia | 2003-01-01 | no assertion criteria provided | literature only | |
VIB Department of Molecular Genetics, |
RCV000084517 | SCV000116653 | not provided | not provided | no assertion provided | not provided |