ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.262G>A (p.Glu88Lys)

gnomAD frequency: 0.00001  dbSNP: rs373705830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056904 SCV001221369 uncertain significance Frontotemporal dementia 2022-08-05 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 852322). This missense change has been observed in individual(s) with Parkinson disease (PMID: 32171587). This variant is present in population databases (rs373705830, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 117 of the MAPT protein (p.Glu117Lys).

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