ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)

gnomAD frequency: 0.00001  dbSNP: rs104895214
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083683 SCV002299484 uncertain significance Familial Mediterranean fever 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 364 of the MEFV protein (p.Pro364Leu). This variant is present in population databases (rs104895214, gnomAD 0.01%). 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: 97432). 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 leucine 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 RCV002262630 SCV002543687 uncertain significance Autoinflammatory syndrome 2018-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490734 SCV002797599 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-04-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000083683 SCV003802199 likely benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126419 SCV003802202 benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126420 SCV003802203 benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083683 SCV000115770 not provided Familial Mediterranean fever no assertion provided not provided

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