ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)

dbSNP: rs1060501083
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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 RCV000474427 SCV000544929 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 886 of the FBN1 protein (p.Pro886Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with FBN1-related conditions (PMID: 33483584; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 406356). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent, University of Ghent RCV000663564 SCV000786875 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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