ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly)

dbSNP: rs1060501088
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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 RCV000471448 SCV000544940 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2016-04-04 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FBN1-related disease. This sequence change replaces aspartic acid with glycine at codon 2757 of the FBN1 protein (p.Asp2757Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine.

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