Chromosome 22 houses a mutation in gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Mitochondrial DNA depletion syndrome 1