LPL and Combined hyperlipidemia: This variant was reported in a compound heterozygous state with LPL:c.-281T>G in a patient diagnosed with familial combined hyperlipidemia and reduced post-heparin plasma LPL activity, with this variant specifically impacting an Oct-1 transcription factor binding site leading to reduction in transcriptional activity of the variant promoter to less than 15% of WT [137].