ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)

gnomAD frequency: 0.00007  dbSNP: rs104895185
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083776 SCV001569576 uncertain significance Familial Mediterranean fever 2022-02-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 151 of the MEFV protein (p.Arg151Ser). This variant is present in population databases (rs104895185, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of familial Mediterranean fever (PMID: 21413889). ClinVar contains an entry for this variant (Variation ID: 97524). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV000083776 SCV001806003 uncertain significance Familial Mediterranean fever 2021-07-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326347 SCV004033450 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing MEFV: PM2, BP4
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083776 SCV000115873 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083776 SCV002087461 uncertain significance Familial Mediterranean fever 2020-03-09 no assertion criteria provided clinical testing

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