ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.*9C>T (rs11466048)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514937 SCV000610008 likely benign not provided 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV001079215 SCV000629015 benign Familial Mediterranean fever 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000722126 SCV000696038 likely benign not specified 2018-06-04 criteria provided, single submitter clinical testing Variant summary: MEFV c.*9C>T is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.0024 in 277044 control chromosomes, but was observed predominantly within the African subpopulation in the gnomAD database at a frequency of 0.024, including 5 homozygotes. The variant frequency within African control individuals in the gnomAD database is slightly above (1.11 fold) the estimated maximal expected allele frequency for a pathogenic variant in MEFV causing Familial Mediterranean Fever phenotype (0.022), suggesting the variant may be a benign polymorphism found primarily in populations of African origin. c.*9C>T has been reported in the literature in affected individuals; however, this report does not provide unequivocal conclusions about association of the variant with Familial Mediterranean Fever. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and both classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000514937 SCV000885683 likely benign not provided 2017-07-06 criteria provided, single submitter clinical testing The MEFV c.*9C>T variant (rs11466048), to our knowledge, has not been reported in the medical literature in an individual with familial Mediterranean fever (FMF). The variant is reported in the ClinVar database (Variation ID: 445530) and in the Genome Aggregation Database in the African population with an overall allele frequency of 2.3% (569/24018 alleles, including 5 homozygotes). This is a variant in the 3' untranslated region and the nucleotide at this position is not well conserved across species. Considering available information, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001079215 SCV001277617 uncertain significance Familial Mediterranean fever 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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