ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.220+2451C>G

dbSNP: rs760729741
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001973180 SCV002255636 uncertain significance Frontotemporal dementia 2021-10-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 78 of the MAPT protein (p.Pro78Ala). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MAPT-related conditions. This variant is present in population databases (rs760729741, gnomAD 0.006%).

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