A rare heterozygous missense variant (c.452A>G, p.Lys151Arg) in EARS2 (NM_001083614) encoding mitochondrial glutamyl-transfer RNA synthetase was identified; recessive pathogenic EARS2 variants cause the mitochondrial disorder leukoencephalopathy with thalamus and brainstem involvement and high lactate.11 However, the c.452A>G p.(Lys151Arg) variant was not previously reported as pathogenic. The gene discussed is EARS2; the disease is Leukoencephalopathy.