The same p.(Arg327Gln) variant had been reported in compound heterozygosity with the p.(Arg419Trp) variant in one individual with Combined oxidative phosphorylation deficiency‐21 (COXPD‐21; OMIM: 615918), a condition characterised by severe hypotonia, epilepsy and developmental delay without diabetes.10 Here, TARS2 is linked to diabetes mellitus.