By contrast, one patient with a mild CSS phenotype related to a truncating variant c.2935C > T;p.Arg979* developed a SCCOHT [40], again suggesting that detection of truncating SMARCA4 variants in females justifies surveillance for SCCOHT [40], suggesting that detection of this particular genotype in females justifies surveillance for SCCOHT. The gene discussed is SMARCA4; the disease is Coffin-Siris syndrome.