In a screen for mutations in MEFV in patients with familial mediterranean fever, 4 out of 180 patient chromosomes had this variant. Only 1 out of 222 control chromosomes had it.
This variant was seen as part of a compound het (with R408Q) in a 17yo Japanese male with probable FMF (first episode at 6yo). His mother had the same genotype and was asymptomatic. In an analysis of 512 Japanese individuals (1024 chromosomes), the allelic frequency was determined to 0.057. Two control individuals were homozygous for both variants, and LD with R408Q is 1. The authors conclude that they may be weakly involved in the development of FMF.