This variant was found in one French female with hypercholesterolemia, but her daughter was symptomatic without this variant. The father died of MI at 43yo. It was not found in 340 controls. The authors conclude that it is likely a rare but benign variant.
In a 20 year longitudinal study of 1,750 Black and 1,828 Caucasian individuals, this variant was found to correlate with significantly lower LDL-C levels in Black individuals (95.5 mg/dL vs 109.6 mg/dL for wildtype).