This variant is described as being compound heterozygous in three of eight families with PXE.
The authors report noticing this variant in a large Pseudoxanthoma elasticum (PXE) pedigree and, upon following up, finding in an unrelated partner and at a relatively high frequency in their Caucasian controls (62 subjects). Three healthy volunteers were homozygous for this variant. They conclude that the variant does not cause PXE although it could have a modifier role.
In a study of 216 Inuit, the authors report that this variant is associated with lower plasma triglycerides and higher plasma HDL cholesterol (p = 0.012 and p = 0.045, respectively). They magnitude of the effect is not reported, and the authors do not report on how much of overall variance this variant would explain.
This variant has a weak but statistically significant association with toxicity of thalidomide, but it’s unclear from the publication whether carriers of the variant are more or less susceptible.