The gene LOC130006765, PTS (ATAC-STARR-seq lymphoblastoid silent region 3906| 6-pyruvoyltetrahydropterin synthase) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency