These truncating variants occur in BRCA2, TGFBR1, DSP (n = 2), and LDLR, and ClinVar suggests that mutations located 3’ in the coding sequence of these genes are pathogenic for the ACMG conditions of hereditary breast and ovarian cancer, Loeys-Dietz syndrome type 1A, arrhythmogenic right ventricular cardiomyopathy, and familial hypercholesterolemia, respectively. The gene discussed is LDLR; the disease is familial hypercholesterolemia.