Assess the clinical impact of this variant on gene LOC130006765, PTS (ATAC-STARR-seq lymphoblastoid silent region 3906| 6-pyruvoyltetrahydropterin synthase), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency