ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu)

dbSNP: rs1555399833
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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 RCV000530072 SCV000627845 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2017-05-27 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on FBN1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a FBN1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 621 of the FBN1 protein (p.Gly621Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321645 SCV004026413 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing PP3, PM2_SUP, PP2

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