The detection of a novel heterozygous frameshift variant in the LDLR gene (c.2171delC; p. Thr724Asnfs*6), absent from public population databases and consistent with loss-of-function, is strongly indicative of familial hypercholesterolemia (FH), particularly given its classification as “likely pathogenic” according to ACMG criteria (Nykamp et al., 2017)The identification of this variant in multiple affected individuals and its confirmation by Sanger sequencing in individual V.4 provide compelling evidence for its segregation with disease. This evidence concerns the gene LDLR and familial hypercholesterolemia.