The newly identified missense variant c.1391T>C, p.(lle464Thr) and the premature stop codon c.314delG (p.(Gly105Alafs*4)) variant in YARS2 gene are responsible for a distinct phenotype of mitochondrial disease associating MLASA and pancreatic insufficiency. This evidence concerns the gene YARS2 and exocrine pancreatic insufficiency.