ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2858del (p.Ile953fs)

dbSNP: rs1555398836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507061 SCV000603639 pathogenic not specified 2016-10-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587203 SCV000695495 pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 2017-03-14 criteria provided, single submitter clinical testing Variant summary: The FBN1 c.2858delT (p.Ile953Thrfs) variant results in a premature termination codon, predicted to cause a truncated or absent FBN1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., c.3973dupG [p.Glul1325fs). The variant lies within the TGFBP #3 functional domain (UMD) and one in silico tool predicts a damaging outcome for this variant. This variant is absent from the large control database ExAC (0/115756 control chromosomes). In addition, the variant has been cataloged in patient databases, such as UMD (UMD IDs 2349 and 2905), and was reported in the literature in a MFS patient fulfilling the revised Ghent criteria and classified as causative by the authors (Baetens_2011). Taken together, this variant is classified as pathogenic.
Centre of Medical Genetics, University of Antwerp RCV000663586 SCV002025552 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663586 SCV000786898 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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