A: The variant NC_000020.11:g.17970062C>G in gene MGME1 is classified as 'Uncertain_significance' for Mitochondrial_DNA_depletion_syndrome_11. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447. Review status: criteria provided, single submitter.