ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)

gnomAD frequency: 0.00001  dbSNP: rs104895199
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083702 SCV001392808 uncertain significance Familial Mediterranean fever 2022-06-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 513 of the MEFV protein (p.Ile513Thr). This variant is present in population databases (rs104895199, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of MEFV-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 97450). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001753485 SCV002005549 uncertain significance not provided 2019-04-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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-Nilou Lab RCV000083702 SCV003802086 benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126431 SCV003802087 benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126432 SCV003802088 benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083702 SCV000115793 not provided Familial Mediterranean fever no assertion provided not provided

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