A: The variant NC_000020.11:g.59030311C>A in gene ATP5F1E is classified as 'Uncertain_significance' for Mitochondrial_complex_V_(ATP_synthase)_deficiency_nuclear_type_3. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013547,MedGen:C3279708,OMIM:614053,Orphanet:254913. Review status: criteria provided, single submitter.