ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)

dbSNP: rs63750349
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Total submissions: 4
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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, University of Antwerp RCV000084517 SCV000116653 not provided not provided no assertion provided not provided

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