ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) (rs387907570)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216370 SCV000279355 pathogenic not provided 2015-05-26 criteria provided, single submitter clinical testing The G687D missense mutation in the MEFV gene has been reported previously in four patients of Turkish ancestry in association with familial Mediterranean fever (FMF) (Oztuzcu et al., 2014). G687D was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. It is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved and in-silico analysis predicts this variant is probably damaging to the protein structure/function. In addition, missense mutations in nearby residues (G678E, M680L/I, T681I, Y688C, M694V/L/K/I, K695R/M/N) have been reported in the Human Gene Mutation Database in association with FMF (Stenson et al., 2014), supporting the functional importance of this region of the protein.
Medical Biology Lab, Gaziantep University RCV000049558 SCV000082616 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.