ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro)

dbSNP: rs2141287453
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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 RCV002002017 SCV002209757 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-09-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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) performed at Invitae indicates that this missense variant is expected to disrupt 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 leucine with proline at codon 1292 of the FBN1 protein (p.Leu1292Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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