A: The variant NC_000022.11:g.50529598C>A in gene TYMP is classified as 'Pathogenic' for Mitochondrial_DNA_depletion_syndrome_1|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.