ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)

gnomAD frequency: 0.00001  dbSNP: rs1267721327
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Total submissions: 4
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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, Children's Hospital of Eastern Ontario RCV000769642 SCV000901042 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-07-10 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV000663596 SCV002025557 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS1, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663596 SCV000786913 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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