ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.995G>T (p.Arg332Leu)

dbSNP: rs748929044
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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 RCV000819507 SCV000960171 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2019-03-15 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FBN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 332 of the FBN1 protein (p.Arg332Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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