ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2184G>C (p.Gln728His)

dbSNP: rs1598408073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823456 SCV000964316 uncertain significance Frontotemporal dementia 2021-09-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 336 of the MAPT protein (p.Gln336His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with frontotemporal lobar degeneration (PMID: 24081456, 26426266). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects MAPT function (PMID: 26426266). 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.
Institute of Human Genetics, Klinikum rechts der Isar RCV000823456 SCV001150162 pathogenic Frontotemporal dementia 2018-02-01 criteria provided, single submitter clinical testing

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