ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)

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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 RCV002982529 SCV003288523 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 101 of the FBN1 protein (p.Thr101Ile). This variant is present in population databases (rs778655626, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FBN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2075634). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004007737 SCV004829755 uncertain significance Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing

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