ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly)

dbSNP: rs869025410
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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 RCV003815545 SCV004606043 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2013 of the FBN1 protein (p.Asp2013Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Marfan syndrome (Invitae). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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