This variant affects the gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1