ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)

gnomAD frequency: 0.00001  dbSNP: rs758868622
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540246 SCV000629017 uncertain significance Familial Mediterranean fever 2023-09-06 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 408 of the MEFV protein (p.Arg408Trp). This variant is present in population databases (rs758868622, gnomAD 0.002%). 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: 457994). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263736 SCV002543692 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506300 SCV002815498 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2021-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000540246 SCV003802173 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126797 SCV003802174 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126798 SCV003802175 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000540246 SCV001452078 uncertain significance Familial Mediterranean fever 2020-09-16 no assertion criteria provided clinical testing

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