A: The variant NC_000022.11:g.50524162T>C in gene SCO2 is classified as 'Uncertain_significance' for Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1. Molecular consequence: SO:0001583: missense_variant,SO:0001624: 3_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561. Review status: criteria provided, single submitter.