ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)

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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 RCV003077403 SCV003463370 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-01-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FBN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 375 of the FBN1 protein (p.Glu375Asp). 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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