ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)

gnomAD frequency: 0.00003  dbSNP: rs104895096
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000083746 SCV001139818 uncertain significance Familial Mediterranean fever 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000083746 SCV002183880 uncertain significance Familial Mediterranean fever 2022-01-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 704 of the MEFV protein (p.Val704Ile). This variant is present in population databases (rs104895096, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of familial Mediterranean fever (PMID: 11464238, 16730661, 33738724). ClinVar contains an entry for this variant (Variation ID: 97494). 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 isoleucine 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-Nilou Lab RCV000083746 SCV003801593 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126447 SCV003801605 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126448 SCV003801616 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083746 SCV000115840 not provided Familial Mediterranean fever no assertion provided not provided

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