ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1459G>A (p.Val487Met)

dbSNP: rs104895100
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000083697 SCV001139853 uncertain significance Familial Mediterranean fever 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000083697 SCV001384977 uncertain significance Familial Mediterranean fever 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 487 of the MEFV protein (p.Val487Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with periodic fever (PMID: 22580583). ClinVar contains an entry for this variant (Variation ID: 97445). 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.
Fulgent Genetics, Fulgent Genetics RCV002477245 SCV002786069 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2021-09-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000083697 SCV003802127 likely benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126427 SCV003802128 benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126428 SCV003802129 benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083697 SCV000115786 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083697 SCV002087404 uncertain significance Familial Mediterranean fever 2020-12-11 no assertion criteria provided clinical testing

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