A: The variant NC_000022.11:g.41528545_41528547del in gene ACO2 is classified as 'Uncertain_significance' for Optic_atrophy. Molecular consequence: SO:0001624: 3_prime_UTR_variant,SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124. Review status: no assertion criteria provided.