ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1467G>A (p.Gln489=) (rs61732424)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126746 SCV000170258 benign not specified 2011-10-24 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 RCV001282844 SCV000604169 benign none provided 2020-08-27 criteria provided, single submitter clinical testing
Invitae RCV000083698 SCV000629023 benign Familial Mediterranean fever 2020-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590572 SCV000696049 likely benign not provided 2017-02-01 criteria provided, single submitter clinical testing Variant summary: The MEFV c.1467G>A (p.Gln489Gln) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this substitution along with 5/5 splice prediction tools predicting the variant not to have a significance impact on normal splicing. The variant was found in 460/121412 control chromosomes (2 homozygotes) at a frequency of 0.0037888, which does not exceed 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; nor evaluated for functional impact by in vivo/vitro studies. In addition, a clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000590572 SCV001150751 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000083698 SCV001276007 uncertain significance Familial Mediterranean fever 2018-01-13 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.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083698 SCV000115787 not provided Familial Mediterranean fever no assertion provided not provided

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