A pathogenic heterozygous missense variant in LDLR (c.G523A, p.D175N; rs121908033; ClinVar ID: 3726) [37, 38], diagnostic for familial hypercholesterolemia, was identified in a 21.1-year-old male with an elevated LDLC level of 4.53 mmol/L. The gene discussed is LDLR; the disease is familial hypercholesterolemia.