ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) (rs727502904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788373 SCV000927458 likely pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150197 SCV000197121 likely pathogenic Noonan syndrome; Cardio-facio-cutaneous syndrome 2015-03-16 criteria provided, single submitter clinical testing The p.Ala712Asp variant in BRAF has been identified by our laboratory in 2 indiv iduals with Noonan syndrome including one de novo occurrence. It was absent from large population studies. Computational prediction tools and conservation analy sis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although addition al studies are required to fully establish its clinical significance, the p.Ala7 12Asp variant is likely pathogenic.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824929 SCV000965961 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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