ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4151T>C (p.Met1384Thr) (rs1555397658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821492 SCV000962250 uncertain significance Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1384 of the FBN1 protein (p.Met1384Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Marfan syndrome or incomplete Marfan syndrome (PMID: 27906200, Invitae) and segregates with disease in a family (Invitae). ClinVar contains an entry for this variant (Variation ID: 549211). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Center for Medical Genetics Ghent,University of Ghent RCV000663698 SCV000787030 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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