ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2045dup (p.Ser683fs)

gnomAD frequency: 0.00001  dbSNP: rs1242998026
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001935450 SCV002178415 uncertain significance Familial Mediterranean fever 2021-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser683Valfs*16) in the MEFV gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 99 amino acid(s) of the MEFV protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MEFV-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV003223738 SCV003919688 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 99 amino acids are replaced with 15 different amino acids; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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.