ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.220+2475G>A

gnomAD frequency: 0.00006  dbSNP: rs63751135
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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 RCV005089558 SCV005771336 uncertain significance Frontotemporal dementia 2024-10-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 86 of the MAPT protein (p.Gly86Ser). This variant is present in population databases (rs63751135, gnomAD 0.005%). This missense change has been observed in individual(s) with frontotemporal dementia and/or dementia with Lewy bodies (PMID: 15372253, 31996268). ClinVar contains an entry for this variant (Variation ID: 98196). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
VIB Department of Molecular Genetics, University of Antwerp RCV000084501 SCV000116637 not provided not provided no assertion provided not provided

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