Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
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, |
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, |
RCV000663586 | SCV002025552 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP4 |
Center for Medical Genetics Ghent, |
RCV000663586 | SCV000786898 | likely pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |