ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys)

gnomAD frequency: 0.00002  dbSNP: rs63750191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857413 SCV002292778 uncertain significance Frontotemporal dementia 2022-09-10 criteria provided, single submitter clinical testing 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: 98233). This missense change has been observed in individual(s) with clinical features of MAPT-related conditions (PMID: 29091718). This variant is present in population databases (rs63750191, gnomAD 0.007%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 424 of the MAPT protein (p.Gln424Lys). 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 RCV000084555 SCV000116691 not provided not provided no assertion provided not provided

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