Given a variant located on Chromosome 22 and affecting LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome 1