Fig. 4. Updating Sherloc-based classification with functional assay results in the reclassification of nine PINK1 variants.

a Scoring system based on the functional assays in this study. Points were assigned as shown, based on both the mitophagy assay (%induction and MFI) and the Parkin translocation assay (% translocation and type of Parkin translocation). b Updated ACMG-AMP annotations of the 50 missense variants as shown in Fig. 1c, including the updated Sherloc classification (right). Horizontal bar graphs show all the studied variants. Vertical bar graphs are stratified by the origin of the reported missense variant in the Venn diagram shown on the left. c Overview of all PINK1 missense variants assessed in this study and their annotation based on the patient databases, Sherloc and Sherloc after functional testing.