ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)

dbSNP: rs772332566
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262060 SCV002543751 uncertain significance Autoinflammatory syndrome 2021-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502075 SCV002783718 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2021-12-25 criteria provided, single submitter clinical testing
Invitae RCV003095938 SCV003461487 uncertain significance Familial Mediterranean fever 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 100 of the MEFV protein (p.Gly100Arg). This variant is present in population databases (rs772332566, gnomAD 0.0009%). 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 arginine 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-Nilou Lab RCV003095938 SCV003802430 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126208 SCV003802431 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126209 SCV003802432 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing

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