ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1982A>T (p.Gln661Leu)

dbSNP: rs2074495003
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226581 SCV001398901 uncertain significance Frontotemporal dementia 2019-10-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MAPT-related conditions. This sequence change replaces glutamine with leucine at codon 269 of the MAPT protein (p.Gln269Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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