ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1368A>C (p.Glu456Asp) (rs1567233429)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780408 SCV000917630 uncertain significance not specified 2018-07-24 criteria provided, single submitter clinical testing Variant summary: MEFV c.1368A>C (p.Glu456Asp) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 277628 control chromosomes (gnomAD and publication). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.1368A>C, has been reported in the literature in individuals affected with Familial Mediterranean Fever (Berdeli_2011) but with limited information. This report does not provide an unequivocal conclusion about association of the variant with Familial Mediterranean Fever. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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