The PLN nonsense variant c.116T>G, p. Leu39Term (also encountered in the literature as Leu39stop and Leu39X) was initially reported in a Greek family with DCM (Haghighi et al., 2003) but has since been identified in additional populations, with patients exhibiting clinical phenotypes ranging from asymptomatic hypertrophy to HCM or severe DCM with cardiac arrhythmias (Chiu et al., 2007; Landstrom et al., 2011; Medeiros et al., 2011; Alfares et al., 2015; Sanoudou et al., 2015; Walsh et al., 2017a; Walsh et al., 2017b; Mazzone et al., 2024). The gene discussed is PLN; the disease is cardiac rhythm disease.