A: The variant NC_000022.11:g.41515801G>C in gene ACO2 is classified as 'Uncertain_significance' for Infantile_cerebellar-retinal_degeneration|Optic_atrophy_9|Inborn_genetic_diseases|Retinal_dystrophy|Mitochondrial_disease|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850|MONDO:MONDO:0014571,MedGen:C4225384,OMIM:616289|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.