ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1146C>T (p.Thr382=)

gnomAD frequency: 0.00001  dbSNP: rs889875676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607864 SCV000726025 likely benign not specified 2017-12-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001860318 SCV002210540 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-03-11 criteria provided, single submitter clinical testing This sequence change affects codon 382 of the FBN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FBN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 514304). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
All of Us Research Program, National Institutes of Health RCV004002577 SCV004823490 likely benign Marfan syndrome 2023-08-08 criteria provided, single submitter clinical testing

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