ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)

gnomAD frequency: 0.00002  dbSNP: rs762605919
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795051 SCV000934492 uncertain significance Familial Mediterranean fever 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 579 of the MEFV protein (p.Arg579Cys). This variant is present in population databases (rs762605919, gnomAD 0.06%). 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: 641743). 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.
GeneDx RCV001776003 SCV002013500 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263985 SCV002543717 uncertain significance Autoinflammatory syndrome 2021-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000795051 SCV003802060 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126937 SCV003802061 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126938 SCV003802062 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000795051 SCV002087392 uncertain significance Familial Mediterranean fever 2020-02-26 no assertion criteria provided clinical testing

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