A: The variant NC_000019.10:g.39480879C>A in gene TIMM50 is classified as 'Pathogenic' for Mitochondrial_encephalopathy|3-methylglutaconic_aciduria_type_9. Molecular consequence: SO:0001587: nonsense,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0006789,MedGen:C1852373|MONDO:MONDO:0044724,MedGen:C4540171,OMIM:617698,Orphanet:505216. Review status: criteria provided, single submitter.