ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.-15C>G (rs11466015)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000294823 SCV000396789 uncertain significance Familial Mediterranean fever 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000438166 SCV000513589 likely benign not specified 2017-11-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000438166 SCV001159771 likely benign not specified 2019-04-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438166 SCV001482170 uncertain significance not specified 2021-02-11 criteria provided, single submitter clinical testing Variant summary: MEFV c.-15C>G is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.0035 in 150986 control chromosomes, predominantly at a frequency of 0.012 within the African or African-American subpopulation in the gnomAD v3.1 database, including 3 homozygotes. This frequency is not higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (0.012 vs 0.022). To our knowledge, no occurrence of c.-15C>G in individuals affected with Familial Mediterranean Fever and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance and two ClinVar submitters (evaluation after 2014) cite it as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Natera, Inc. RCV000294823 SCV001462436 uncertain significance Familial Mediterranean fever 2020-05-05 no assertion criteria provided clinical testing

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