ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7112G>A (p.Trp2371Ter) (rs1555394567)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000663930 SCV000787301 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
Invitae RCV000530226 SCV000627981 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2371 (p.Trp2371*) of the FBN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBN1 are known to be pathogenic. This particular variant has been reported in the literature in an individual with Marfan syndrome (PMID: 21542060). For these reasons, this variant has been classified as Pathogenic.

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