ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.239G>A (p.Arg80His) (rs201075710)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781524 SCV000919625 uncertain significance not specified 2018-03-13 criteria provided, single submitter clinical testing Variant summary: MEFV c.239G>A (p.Arg80His) results in a non-conservative amino acid change located in the DAPIN domain (IPR004020) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.4e-05 in 275748 control chromosomes (gnomAD and literature). This frequency is not significantly higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (5.4e-05 vs 2.20e-02), allowing no conclusion about variant significance. c.239G>A has not been reported in the literature in individuals affected with Familial Mediterranean Fever. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.