ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)

gnomAD frequency: 0.00004  dbSNP: rs974837695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049876 SCV002115443 uncertain significance Frontotemporal dementia 2021-11-04 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with MAPT-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 4 of the MAPT protein (p.Pro4Thr).
Fulgent Genetics, Fulgent Genetics RCV002506868 SCV002816349 uncertain significance Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1 2021-10-08 criteria provided, single submitter clinical testing

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