ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5423-2A>G

dbSNP: rs1566900540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769640 SCV000901040 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2017-08-18 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004782539 SCV005395917 likely pathogenic Marfan syndrome 2024-09-17 criteria provided, single submitter clinical testing
GeneDx RCV004783850 SCV005396479 pathogenic not provided 2024-05-02 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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