ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)

dbSNP: rs1958986915
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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 RCV001238979 SCV001411821 uncertain significance Familial Mediterranean fever 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 451 of the MEFV protein (p.Phe451Cys). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is not present in population databases (ExAC no frequency). 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 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.
CeGaT Center for Human Genetics Tuebingen RCV001532318 SCV001747825 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001238979 SCV003802150 likely benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127714 SCV003802151 benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127715 SCV003802152 benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001238979 SCV002087407 uncertain significance Familial Mediterranean fever 2021-04-01 no assertion criteria provided clinical testing

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