ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser)

dbSNP: rs1555398992
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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 RCV000631945 SCV000753048 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-03-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 527166). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 variant has not been reported in the literature in individuals affected with FBN1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 918 of the FBN1 protein (p.Pro918Ser). This variant is not present in population databases (gnomAD no frequency).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736865 SCV004562536 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing

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