ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)

gnomAD frequency: 0.00001  dbSNP: rs1437746739
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001339143 SCV001532864 uncertain significance Familial Mediterranean fever 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 280 of the MEFV protein (p.Arg280Lys). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected 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 lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 Diagnostics Laboratory, The Hospital for Sick Children RCV002264271 SCV002542307 uncertain significance Autoinflammatory syndrome 2018-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001339143 SCV003802260 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127814 SCV003802261 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127815 SCV003802262 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001339143 SCV002087430 uncertain significance Familial Mediterranean fever 2021-08-13 no assertion criteria provided clinical testing

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