ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.220+2491C>T

gnomAD frequency: 0.00004  dbSNP: rs780582778
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526140 SCV000632348 uncertain significance Frontotemporal dementia 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 91 of the MAPT protein (p.Ala91Val). This variant is present in population databases (rs780582778, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of Parkinson’s disease (PMID: 21344240, 33006106). ClinVar contains an entry for this variant (Variation ID: 460292). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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