ABCG8 and sitosterolemia 2: Furthermore, two ClinVar reported, and one novel putative pathogenic variant were identified in ABCG8 including one homozygous individual carrying a known variant (p. Gly574Arg) associated with Sitosterolemia 2, explaining their higher LDL-C level of 6mmol/L (97th percentile) (Tables 4 and 5).