ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1356+11A>C

gnomAD frequency: 0.00001  dbSNP: rs548648384
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Total submissions: 2
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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 RCV001174703 SCV001337960 uncertain significance not specified 2020-01-19 criteria provided, single submitter clinical testing Variant summary: MEFV c.1356+11A>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.4e-05 in 251468 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (4.4e-05 vs 0.022), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1356+11A>C in individuals affected with Familial Mediterranean Fever and no experimental evidence demonstrating its impact on protein function have 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002068125 SCV002433093 likely benign Familial Mediterranean fever 2023-02-04 criteria provided, single submitter clinical testing

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