ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2404A>C (p.Asn802His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003456980 SCV004184685 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing MAPT: PM2:Supporting, PS4:Supporting, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003514643 SCV004298245 uncertain significance Frontotemporal dementia 2023-08-28 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects MAPT function (PMID: 24121548, 27641626). 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. This missense change has been observed in individuals with clinical features of frontotemporal dementia (PMID: 24121548, 29253099). This variant is present in population databases (rs777148159, gnomAD 0.003%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 410 of the MAPT protein (p.Asn410His).

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