CBL somatic and germ-line LOF variants such as R420Q have been previously associated with tumoral diseases including clonal myeloproliferative disorders Schnittger et al., 2012; Fernandes et al., 2010; Sargin et al., 2007; Dunbar et al., 2008; Bernard et al., 2014; Loh et al., 2009; Grand et al., 2009; Klampfl et al., 2013; Niemeyer et al., 2010; Javadi et al., 2013; Ogawa, 2019 and RASopathies (Brand et al., 2014), respectively. The gene discussed is CBL; the disease is neoplasm.