ClinVar

Description

The MEFV c.1894G>A; p.Gly632Ser variant (rs104895128) is reported in the literature in multiple individuals affected with familial Mediterranean fever (Goulielmos 2006, Oztuzcu 2014, Shinar 2007, Umeda 2017) and in an individual with adult-onset Still’s disease (Nonaka 2015). This variant is also reported in ClinVar (Variation ID: 97467). This variant is found in the general population with an overall allele frequency of 0.004% (10/274946 alleles) in the Genome Aggregation Database. The glycine at codon 632 is weakly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.255). Due to limited information, the clinical significance of the p.Gly632Ser variant is uncertain at this time. References: Goulielmos GN et al. Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF). Biochem Biophys Res Commun. 2006 Jul 14;345(4):1326-32. PMID: 16730661. Nonaka F et al. Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease. Clin Exp Immunol. 2015 Mar;179(3):392-7. PMID: 25286988. Oztuzcu S et al. Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey. Mol Biol Rep. 2014;41(4):2601-7. PMID: 24469716. Shinar Y et al. Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. Rheumatology (Oxford). 2007 Nov;46(11):1718-22. PMID: 17938136. Umeda M et al. A Japanese familial Mediterranean fever patient with a rare G632S MEFV mutation in exon 10. Mod Rheumatol. 2017 Mar;27(2):378-379. PMID: 27310525.