Fig. 2: Approach for classification of ABCC6 missense variants.
Missense variants were collected along with available clinical and functional evidence, which were scored using a classification approach based on Sherloc.13 Based on the total score, the variant was assigned to one of five classes (C1–C5). For class 3, variants were subdivided among three subclasses: those with a likely benign or pathogenic tendency and those that are truly uncertain. Sherloc-derived classification results were compared with American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP)–derived result and with interpretations reported in ClinVar and/or Leiden Open Variation Database (LOVD) if available. AF allele frequency, B benign point, P pathogenic point, VUS variants of uncertain significance.
