Based on limited published evidence, CCM2L is a scaffold protein involved in protein binding and heart morphogenesis. The gene's primary known function derives from GO annotations indicating roles in cardiac development. Recently, compound heterozygous loss-of-function variants in CCM2L were identified in a fetus with Tetralogy of Fallot (TOF), featuring a ventricular septal defect, overriding aorta, and pulmonary stenosis 1. This represents the first reported case of biallelic CCM2L variants in humans, suggesting a potential association with TOF pathogenesis. However, functional studies characterizing CCM2L's specific molecular mechanisms remain limited.