ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1759+1G>A

dbSNP: rs876660996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000223214 SCV000279051 pathogenic not provided 2014-07-03 criteria provided, single submitter clinical testing The c.1759+1 G>A mutation has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.1759+1 G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.1759+1 G>A destroys the canonical splice donor site of intron 8. Other splice site mutations in exon 8 of the MEFV gene have been published, according to the Human Gene Mutation Database (Stenson et al., 2009).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000223214 SCV003932180 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing PM2

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