ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1502G>A (p.Arg501His) (rs104895196)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000083700 SCV001016578 likely benign Familial Mediterranean fever 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001192542 SCV001360754 uncertain significance not specified 2019-08-22 criteria provided, single submitter clinical testing Variant summary: MEFV c.1502G>A (p.Arg501His) results in a non-conservative amino acid change in 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 0.00016 in 283136 control chromosomes (gnomAD and Carmi_2014 ). This frequency is not significantly higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (0.00016 vs 0.022), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1502G>A in individuals affected with Familial Mediterranean Fever and no experimental evidence demonstrating its impact on protein function have been reported. Infevers database states that this mutation was found in an asymptomatic individual who also carried another variant MEFV c.442G>C; p.Glu148Gln. They classified this variant as likely benign. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083700 SCV000115789 not provided Familial Mediterranean fever no assertion provided not provided

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.