ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) (rs397507477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033319 SCV000057224 pathogenic not provided 2017-03-07 criteria provided, single submitter clinical testing The L505F pathogenic variant in the BRAF gene has not been published previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L505F variant has been observed at GeneDx as a de novo variant in several individuals with features of BRAF-related disorders. The L505F variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L505F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. One study indicated the L505F variant resulted in increased kinase activity (Hu et al., 2013). We interpret L505F as a pathogenic variant.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824923 SCV000965955 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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