Of the three variants, the ETFDH stop gain variant p.Trp286Ter (rs1235904433, p = 8 × 10−15, beta = 2.4, MAF = 0.001, rsq = 0.78, CHRIS enrichment = 110x) and the MCCC2 stop lost variant p.Ter564GlnextTer3 (rs751970792, p = 2 × 10−12, beta = 2.0, MAF = 0.001, rsq = 0.88, CHRIS enrichment = 17x) have been reported in individuals with the respective diseases glutaric acidemia type II and 3-methylcrotonylglycinuria, compatible with a recessive disease mode [12,13,14,15]. The gene discussed is MCCC2; the disease is multiple acyl-CoA dehydrogenase deficiency.