ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) (rs1555395191)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498938 SCV000589797 likely pathogenic not provided 2017-08-20 criteria provided, single submitter clinical testing The E2163X likely pathogenic variant in the FBN1 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. E2163X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the FBN1 gene have been reported in HGMD in association with Marfan syndrome (Stenson et al., 2014). Furthermore, the E2163X likely pathogenic 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.
Invitae RCV000702863 SCV000831735 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2163*) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FBN1-related disease. ClinVar contains an entry for this variant (Variation ID: 432112). Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000498938 SCV000885434 pathogenic not provided 2017-11-21 criteria provided, single submitter clinical testing
Department of Vascular Biology,Beijing Anzhen Hospital RCV001374838 SCV001439522 likely pathogenic Isolated thoracic aortic aneurysm 2018-09-01 criteria provided, single submitter research

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