This variant affects the gene LOC126859646, VARS2 (MED14-independent group 3 enhancer GRCh37_chr6:30889690-30890889| valyl-tRNA synthetase 2, mitochondrial) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Combined oxidative phosphorylation defect type 20