ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2350A>G (p.Ile784Val)

dbSNP: rs991713081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001090107 SCV001245571 uncertain significance Early-onset dementia of unclear type 2019-10-28 criteria provided, single submitter research
Invitae RCV002554805 SCV003516518 uncertain significance Frontotemporal dementia 2022-10-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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: 870547). This missense change has been observed in individual(s) with dementia (PMID: 31836585). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 392 of the MAPT protein (p.Ile392Val).

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