ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)

dbSNP: rs1555395191
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498938 SCV000589797 pathogenic not provided 2024-07-29 criteria provided, single submitter clinical testing Has been reported in patients with Marfan syndrome and TAAD in published literature and in individuals referred for genetic testing at GeneDx (PMID: 29848614, 33824467); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33824467, 29848614)
Labcorp Genetics (formerly Invitae), Labcorp RCV000702863 SCV000831735 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-02-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). 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). This variant is not present in population databases (ExAC no frequency). 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.
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
GenomeConnect, ClinGen RCV001824810 SCV002074953 not provided FBN1-related disorder no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 06-08-2016 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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