ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000126746 SCV000604169 benign not specified 2016-09-05 criteria provided, single submitter clinical testing
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.
Integrated Genetics/Laboratory Corporation of America 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.
Invitae RCV000083698 SCV000629023 benign Familial Mediterranean fever 2017-12-19 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083698 SCV000115787 not provided Familial Mediterranean fever no assertion provided not provided

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