ClinVar

Description

Variant summary: The MEFV c.911-12G>A variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 81/268922 control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.003324 (78/23468). This frequency is lower than the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506). The variant of interest has not, to our knowledge, been reported in affected individuals via publications. In FMF database, this variant has been reported in one patient with recurrent fever without strong evidence for or against pathogenicity. Because of the absence of sufficient clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.