A variant was discovered on Chromosome 17, affecting NDUFAF8, LOC130061928 (NADH:ubiquinone oxidoreductase complex assembly factor 8| ATAC-STARR-seq lymphoblastoid active region 12955). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 34