This variant is categorized as pathogenic according to ACMG criteria based on PVS1 (Null variant (nonsense), in gene FYCO1, for which loss-of-function is a known mechanism of disease (gene has 11 pathogenic LOF variants and LOF Z-Score = 2.17 is greater than 0.7), associated with Cataract, autosomal recessive congenital 2). The gene discussed is FYCO1; the disease is cataract.