A: The variant NC_000022.11:g.43141251T>C in gene MCAT is classified as 'Pathogenic' for Optic_atrophy_15. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957935,MedGen:C5882716,OMIM:620583. Review status: no assertion criteria provided.