According to classification of ACMG for assessing the pathogenicity of different variants, the c.223C>T of HAMP are “pathogenic” as it is the null variant in which loss‐of‐function (LOF) is a known mechanism of hemochromatosis (PVS1), absent in population data bases (PM2), recessive disorder detected in trans (PM3), computational evidence showed deleterious effect (PP3), and highly specific disease phenotype (JHH) with single gene (HAMP) (PP4). The gene discussed is HAMP; the disease is hemochromatosis type 1.