ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7453+1G>A

dbSNP: rs397515851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Vascular Biology, Beijing Anzhen Hospital RCV001374812 SCV001439513 likely pathogenic Isolated thoracic aortic aneurysm 2018-09-01 criteria provided, single submitter research
GeneDx RCV001565064 SCV001788335 pathogenic not provided 2019-09-10 criteria provided, single submitter clinical testing Reported in a dissertation in an individual with a MFS-related phenotype (Magyar I, 2011); Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant predicted to result in aberrant splicing, although exact splicing outcome is unknown; Deletions involving coding exons in this gene are frequently reported as pathogenic, regardless of frame prediction (Stenson et al., 2014)

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