ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) (rs104895128)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000083719 SCV000696055 likely pathogenic Familial Mediterranean fever 2016-02-22 criteria provided, single submitter clinical testing Variant summary: The MEFV c.1894G>A variant affects a non-conserved nucleotide, resulting in amino acid change from Gly to Ser. One structual study predicted this variant to be stabilizing (Arakelov_2015) and 3/4 in-silico tools predict this variant to be benign; however, functional studies have not been carried out to confirm these findings and in silico predictions are known to have low sensitivity and specificity for immunological gene variants. This variant is found in 5/122392 control chromosomes at a frequency of 0.0000409, which does not exceed the maximal expected frequency of a pathogenic allele (0.0216506) in this gene. No homozygotes have been reported in general population. The variant has been reported in at least eight FMF patients, one known to be compound heterozygous for a known pathogenic variant and three were homozygous for the variant. One family reported by Shinar_2007 also showed an indication that this variant cosegregated with disease. These patient data strongly suggests for a pathogenic outcome. This variant was also found in patients with adult-onset Stills disease and Behcet disease. The variant is considered a mild pathogenic mutation (Shinar_2007). Taken together, this variant has currently been classified as a Likely Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763382 SCV000894081 likely pathogenic Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083719 SCV000115811 not provided Familial Mediterranean fever no assertion provided not provided
Counsyl RCV000083719 SCV000678115 uncertain significance Familial Mediterranean fever 2019-02-14 no assertion criteria provided clinical testing

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