Figure 4. Pathogenicity evidence of the ABCA4 missense variants in the study following the American College of Medical Genetics and Genomics / Association for Molecular Pathology (ACMG/AMP) guidelines. Our study provides varying degrees of moderate and supporting evidence on nine missense ABCA4 variants. According to the latest ACMG/AMP guidelines, multiple lines of computational evidence provide a third degree of supporting evidence. In addition, the genotypic and phenotypic information obtained from our retrospective patient cohort provided further evidence of pathogenicity. Note that the functional evidence given here is derived from a literature search and is cited in Table 3.