ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu)

dbSNP: rs1566909798
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698130 SCV000826773 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1091 of the FBN1 protein (p.Gly1091Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Marfan syndrome (PMID: 27234404, 31279624; internal data). ClinVar contains an entry for this variant (Variation ID: 575810). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt FBN1 protein function with a positive predictive value of 95%. 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.

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