Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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 | |
Prevention |
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. |