ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2519C>T (p.Pro840Leu)

dbSNP: rs397515777
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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 RCV000035147 SCV000058788 uncertain significance not specified 2012-03-26 criteria provided, single submitter clinical testing The Pro840Leu variant (FBN1) has not been reported in the literature nor previou sly identified by our laboratory. This amino acid residue is not conserved acro ss mammals (orangutan has an alanine at this position) suggesting a change at th is position could be tolerated and computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stron g support for or against an impact to the protein. However, this information is not predictive enough to rule out pathogenicity. Therefore, additional informat ion is needed to fully assess the clinical significance of the Pro840Leu variant .

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