ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) (rs727502904)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Blueprint Genetics RCV000788373 SCV000927458 likely pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001374414 SCV001571369 likely pathogenic Noonan syndrome 7 2021-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000788373 SCV002012567 pathogenic not provided 2021-09-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824929 SCV000965961 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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