ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)

gnomAD frequency: 0.00004  dbSNP: rs770274373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001938426 SCV002195619 uncertain significance Frontotemporal dementia 2020-11-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 211 of the MAPT protein (p.Arg211Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. 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 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"). This variant has not been reported in the literature in individuals with MAPT-related conditions. This variant is present in population databases (rs770274373, ExAC 0.005%).
Fulgent Genetics, Fulgent Genetics RCV002484525 SCV002789667 uncertain significance Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1 2021-09-01 criteria provided, single submitter clinical testing

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