A: The variant NC_000020.11:g.17970315G>A in gene MGME1 is classified as 'Pathogenic/Likely_pathogenic' for Mitochondrial_DNA_depletion_syndrome_11. Molecular consequence: SO:0001587: nonsense,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447. Review status: criteria provided, multiple submitters, no conflicts.