ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2537T>C (p.Ile846Thr)

dbSNP: rs876657809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220087 SCV000271780 uncertain significance not specified 2015-05-08 criteria provided, single submitter clinical testing The p.Ile846Thr variant in FBN1 has not been previously reported in individuals with connective tissue disorders or in large population studies. This variant is located in the last three bases of the exon, which is part of the 5? splice reg ion. Computational tools do not suggest an impact to splicing; however, this inf ormation is not predictive enough to rule out pathogenicity. Additional computat ional tools and conservation analysis suggest that this variant may impact the p rotein, though this information is not predictive enough to determine pathogenic ity. In summary, the clinical significance of the p.Ile846Thr variant is uncerta in.

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