MEFV and familial Mediterranean fever: To date, around 400 MEFV variants have been identified (ClinVar, 2024; Infevers, 2024), with exon 10 and exon 2 being considered as hotspots for pathogenic variants (Bernot et al., 1998), and M694V being the most frequent mutation detected in FMF patients worldwide (Touitou, 2001).