A: The variant NC_000022.11:g.41528523dup in gene ACO2 is classified as 'Pathogenic' for Optic_atrophy_9. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014571,MedGen:C4225384,OMIM:616289. Review status: criteria provided, single submitter.