ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)

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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 RCV002639202 SCV002971423 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-11-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FBN1-related conditions. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FBN1 protein function. 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. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 382 of the FBN1 protein (p.Thr382Ala). This variant is present in population databases (no rsID available, gnomAD 0.003%).
All of Us Research Program, National Institutes of Health RCV004007526 SCV004842692 uncertain significance Marfan syndrome 2024-01-11 criteria provided, single submitter clinical testing

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