Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554330 | SCV000627880 | pathogenic | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-06-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FBN1 protein function. ClinVar contains an entry for this variant (Variation ID: 457186). This missense change has been observed in individuals with Marfan syndrome (Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1011 of the FBN1 protein (p.Gly1011Arg). |
CHEO Genetics Diagnostic Laboratory, |
RCV000769642 | SCV000901042 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-07-10 | criteria provided, single submitter | clinical testing | |
Centre of Medical Genetics, |
RCV000663596 | SCV002025557 | likely pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PS1, PP4 |
Center for Medical Genetics Ghent, |
RCV000663596 | SCV000786913 | uncertain significance | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |