ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)

gnomAD frequency: 0.00003  dbSNP: rs745839954
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207798 SCV001379165 uncertain significance Familial Mediterranean fever 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 192 of the MEFV protein (p.Arg192Gly). This variant is present in population databases (rs745839954, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MEFV-related conditions. ClinVar contains an entry for this variant (Variation ID: 938555). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812251 SCV001473338 uncertain significance not provided 2020-01-05 criteria provided, single submitter clinical testing The MEFV c.574A>G; p.Arg192Gly variant (rs745839954), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on four alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 192 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg192Gly variant is uncertain at this time.
Genome-Nilou Lab RCV001207798 SCV003802303 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127682 SCV003802304 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127683 SCV003802305 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001207798 SCV002087444 uncertain significance Familial Mediterranean fever 2021-05-13 no assertion criteria provided clinical testing

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