This variant affects the gene CRPPA, LOC129998004 (CDP-L-ribitol pyrophosphorylase A| ATAC-STARR-seq lymphoblastoid silent region 17981) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2U