ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg)

dbSNP: rs1274000764
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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 RCV002045706 SCV002301610 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-03-18 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with FBN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 378 of the FBN1 protein (p.Pro378Arg).

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