Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.

ABSTRACT:

Objective

FMF is an inherited autoinflammatory syndrome caused by mutations in the MEFV gene. MEFV variants are still largely classified as acvariant of uncertain significance, or with unresolved classification, posing significant challenges in FMF diagnosis. Rare Exome Variant Ensemble Learner (REVEL) is a recently developed variant metapredictor tool. To reduce the number of MEFV variants with ambiguous classification, we extracted REVEL scores for all missense variants present in the INFEVERS database, and analysed its correlation with expert-based classification and localization in the MEFV-encoded pyrin functional domains.

Methods

The data set of 216 MEFV missense variants was divided into four categories (likely benign, variant of uncertain significance, likely pathoge

SUBMITTER: Accetturo M 

PROVIDER: S-EPMC7188344 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature