ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2184G>C (p.Gln728His) (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 2018-10-23 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 variant has been observed in individuals affected with frontotemporal lobar degeneration (PMID: 24081456, 26426266). Experimental studies have shown that this missense change causes an increase in microtubule assembly in vitro (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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