A: The variant NC_000022.11:g.41507814C>T in gene ACO2 is classified as 'Uncertain_significance' for Optic_atrophy|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|MedGen:C3661900. Review status: criteria provided, single submitter.