ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.675G>C (p.Glu225Asp)

gnomAD frequency: 0.00001  dbSNP: rs104895181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083788 SCV002130804 uncertain significance Familial Mediterranean fever 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 225 of the MEFV protein (p.Glu225Asp). This variant is present in population databases (rs104895181, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of familial Mediterranean fever (PMID: 17594097, 22614345, 24718488). ClinVar contains an entry for this variant (Variation ID: 97536). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The aspartic acid 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.
Revvity Omics, Revvity RCV003129776 SCV003810942 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083788 SCV000115886 not provided Familial Mediterranean fever no assertion provided not provided

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