ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)

dbSNP: rs104895127
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000083793 SCV001139878 uncertain significance Familial Mediterranean fever 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172095 SCV001335041 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV000083793 SCV003443479 uncertain significance Familial Mediterranean fever 2022-07-21 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects MEFV function (PMID: 27030597, 31589380, 33733382). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 97541). This missense change has been observed in individual(s) with pyrin-associated autoinflammation with neutrophilic dermatosis (PMID: 27030597, 31998953). This variant is present in population databases (rs104895127, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 242 of the MEFV protein (p.Ser242Arg).
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083793 SCV000115891 not provided Familial Mediterranean fever no assertion provided not provided
OMIM RCV001174523 SCV001337663 pathogenic Acute febrile neutrophilic dermatosis 2020-06-15 no assertion criteria provided literature only
OMIM RCV000083793 SCV001337664 pathogenic Familial Mediterranean fever 2020-06-15 no assertion criteria provided literature only

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.