Chromosome 6 houses a mutation in gene LOC126859646, VARS2 (MED14-independent group 3 enhancer GRCh37_chr6:30889690-30890889| valyl-tRNA synthetase 2, mitochondrial). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Combined oxidative phosphorylation defect type 20