ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.992T>A (p.Val331Asp)

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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 RCV003812695 SCV004608357 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-17 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FBN1 protein function. This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 331 of the FBN1 protein (p.Val331Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FBN1-related conditions.

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