ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)

dbSNP: rs1567233429
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263973 SCV002543702 uncertain significance Autoinflammatory syndrome 2020-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001825528 SCV003802143 likely benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126928 SCV003802144 benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126929 SCV003802146 benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825528 SCV002087406 uncertain significance Familial Mediterranean fever 2021-01-29 no assertion criteria provided clinical testing

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