ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)

dbSNP: rs2141664466
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785241 SCV002026158 uncertain significance Familial Mediterranean fever, autosomal dominant 2021-10-08 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV001885199 SCV002115984 uncertain significance Familial Mediterranean fever 2021-02-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 763 of the MEFV protein (p.Gly763Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant has not been reported in the literature in individuals with MEFV-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Genome-Nilou Lab RCV001885199 SCV003802289 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785241 SCV003802300 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003125906 SCV003802312 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing

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