MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

Background Familial Mediterranean fever is a hereditary inflammatory disorder caused by variants in MEFV . c.2230G>T p.(Ala744Ser) rs61732874 is considered to be an established pathogenic variant in MEFV , but in this study we provide a complete evaluation that suggests this variant is likely benign. Methods Using an in‐house exome database from 924 individuals, we extracted all individuals harboring this variant for clinical, laboratory, and...