Previous studies also reported nonsense variants of the MSH6 gene in Lynch syndrome families that were classified as deleterious: MSH6 c.1030 C > T:p.Gln344Ter encodes a protein with loss of 1017 amino acid residues19, pSer156Ter is associated with endometrial cancer; Gln177Ter is associated with LS, Ser200Ter is reported in LS or CRC, and Glu207Ter is associated with NPCRC or LSL in the HGMD; and Ser200Ter is reported in LS or CRC in gnomAD. The gene discussed is MSH6; the disease is Leigh syndrome.