Here, we report the identification of two novel SLC25A46 variants (NM_138773.2, hg19) following reanalysis of trio exome (ES) data from a deceased seven-month-old female proband with suspected Leigh syndrome: a missense variant (c.1039C>T, p.Arg347Cys) inherited from the mother and a variant in the donor splice region of intron 1 (c.283+5G>A) inherited from the father. The gene discussed is SLC25A46; the disease is Leigh syndrome.