ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.344C>G (p.Pro115Arg) (rs201766654)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941478 SCV001087365 likely benign Familial Mediterranean fever 2020-11-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000941478 SCV001277844 uncertain significance Familial Mediterranean fever 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286972 SCV001473606 uncertain significance none provided 2020-08-08 criteria provided, single submitter clinical testing The MEFV c.344C>G; p.Pro115Arg (rs201766654) variant is reported in the literature in two Asian individuals with periodic fever syndrome (Li 2019, Taniuchi 2013). The variant is reported in the ClinVar database (Variation ID: 763253) and in the East Asian population with an allele frequency of 0.25% (50/19828 alleles including 1 homozygote) in the Genome Aggregation Database. The proline at codon 115 is moderately conserved and computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. However, given the lack of clinical and functional data, the significance of the p.Pro115Arg variant is uncertain at this time. References: Li J et al. Familial Mediterranean Fever in Chinese Children: A Case Series. Front Pediatr. 2019 Nov 19;7:483. Taniuchi S et al. MEFV Variants in Patients with PFAPA Syndrome in Japan. Open Rheumatol J. 2013 Apr 19;7:22-5.

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