ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)

dbSNP: rs1597537835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804245 SCV000944143 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-10 criteria provided, single submitter clinical testing 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 649332). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1829 of the FBN1 protein (p.Gly1829Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Marfan syndrome (PMID: 28941062; Invitae).
GenomeConnect - Invitae Patient Insights Network RCV001535643 SCV001749678 not provided Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-17-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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