With a mutation on Chromosome 22 in gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome 1