ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2456C>T (p.Thr819Met)

gnomAD frequency: 0.00001  dbSNP: rs63750991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764780 SCV004680593 uncertain significance Frontotemporal dementia 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 427 of the MAPT protein (p.Thr427Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with frontotemporal dementia (PMID: 15940384). ClinVar contains an entry for this variant (Variation ID: 98234). 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 not expected to disrupt MAPT protein function. 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 RCV000084556 SCV000116692 not provided not provided no assertion provided not provided

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