ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) (rs104895080)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213898 SCV000279040 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing The E230K missense mutation in the MEFV gene has been reported previously in association with Familial Mediterranean Fever (FMF) (Touitou et al., 2001, Timmann et al., 2001; Ceylan et al., 2012). It was also published in association with multiple sclerosis in a patient with symptoms and positive family history of FMF (Blaschek et al., 2010). Per the 1000 Genomes Consortium, E230K was observed at a frequency of 1.74%, 3/172 alleles, in individuals of Bengali ancestry (McVean et al., 2012). Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Counsyl RCV000083789 SCV000677982 uncertain significance Familial Mediterranean fever 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV000083789 SCV001019264 likely benign Familial Mediterranean fever 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000083789 SCV001139880 uncertain significance Familial Mediterranean fever 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000213898 SCV001150756 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027835 SCV001190455 uncertain significance Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 2019-05-14 criteria provided, single submitter clinical testing MEFV NM_000243.2 exon 2 p.Glu230Lys (c.688G>A): This variant has been reported in the literature in at least 3 individuals with features of Familial Mediteranean Fever (FMF), at least one of whom represented a compound heterozygote in trans with a known pathogenic variant (Timmann 2001 PMID:1147095, Touitou 2001 PMID:11464238, Ceylan 2012 PMID:29178647). In addition, this variant was also identified in 1 individual with features of FMF and multiple sclerosis (Blaschek 2010 PMID:20876156). This variant is present in 0.4% (143/30614) of South Asian alleles, including 1 homozygote, in the Genome Aggregation Database ( This variant is present in ClinVar (Variation ID:97537). Evolutionary conservation for this variant is unclear; however, this variant Lysine (Lys) is present in 2 primates. Computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000083789 SCV001274515 uncertain significance Familial Mediterranean fever 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centogene AG - the Rare Disease Company RCV000083789 SCV001424453 pathogenic Familial Mediterranean fever criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083789 SCV000115887 not provided Familial Mediterranean fever no assertion provided not provided

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