Given a variant located on Chromosome 10 and affecting ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency