ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)

gnomAD frequency: 0.00003  dbSNP: rs753640366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521274 SCV000621650 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing The S273P variant in the MAPT gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S273P variant is observed in 9/125,998 (0.007%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The S273P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S273P as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002476073 SCV002791958 uncertain significance Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1 2021-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003419916 SCV004117800 uncertain significance MAPT-related condition 2023-08-14 criteria provided, single submitter clinical testing The MAPT c.817T>C variant is predicted to result in the amino acid substitution p.Ser273Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0070% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-44060987-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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