ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.285C>G (p.Cys95Trp) (rs727503384)

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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,Partners HealthCare Personalized Medicine RCV000151719 SCV000200051 likely pathogenic Noonan syndrome 2014-08-11 criteria provided, single submitter clinical testing The Cys95Trp variant in RAF1 has been identified in one individual with clinical features of a Noonan spectrum disorder, which occurred de novo (LMM unpublished data), and was absent from large population studies. Computational prediction t ools and conservation analysis suggest that the Cys95Trp variant may impact the protein, though this information is not predictive enough to determine pathogeni city. In summary, although additional studies are required to fully establish it s clinical significance, the Cys95Trp variant is likely pathogenic.

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