ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)

dbSNP: rs202196752
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213498 SCV000279037 uncertain significance not provided 2021-08-25 criteria provided, single submitter clinical testing Reported in a review paper as a variant of uncertain significance; no patient information is provided as the variant was sourced from ClinVar (Martorana D et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28421071)
Invitae RCV001247010 SCV001420407 uncertain significance Familial Mediterranean fever 2022-09-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 183 of the MEFV protein (p.Pro183Thr). This variant is present in population databases (rs202196752, gnomAD 0.2%). 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: 234358). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 Diagnostics Laboratory, The Hospital for Sick Children RCV002262822 SCV002542289 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500739 SCV002788019 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-03-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001247010 SCV003802320 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126625 SCV003802321 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126626 SCV003802322 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247010 SCV002087448 uncertain significance Familial Mediterranean fever 2019-10-28 no assertion criteria provided clinical testing

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