ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1364G>A (p.Ser455Asn)

gnomAD frequency: 0.00008  dbSNP: rs201458656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928505 SCV002180257 uncertain significance Frontotemporal dementia 2021-11-13 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MAPT-related conditions. This variant is present in population databases (rs201458656, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 129 of the MAPT protein (p.Ser129Asn).

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