ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1587+7G>A (rs375555497)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590407 SCV000696052 uncertain significance not specified 2019-07-05 criteria provided, single submitter clinical testing Variant summary: MEFV c.1587+7G>A 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. Several computational tools predict a significant impact on normal splicing: Two predict the variant creates a cryptic 5' donor site while two predict the variant strengthens a cryptic 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-05 in 250678 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (4e-05 vs 0.022), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1587+7G>A 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.
Invitae RCV000927730 SCV001073319 likely benign Familial Mediterranean fever 2019-12-31 criteria provided, single submitter clinical testing

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