ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.638T>C (p.Leu213Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448836 SCV004176606 uncertain significance Familial Mediterranean fever 2023-03-01 criteria provided, single submitter clinical testing The missense c.638T>C (p.Leu213Pro) variant in MEFV gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu213Pro variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Leu213Pro in MEFV is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 213 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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