ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu)

dbSNP: rs121913341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157824 SCV000207754 pathogenic not provided 2013-12-05 criteria provided, single submitter clinical testing p.Phe595Leu (TTT>TTA): c.1785 T>A in exon 15 of the BRAF gene (NM_004333.4). The F595L missense mutation resulting from nucleotide substitutions c.1785 T>A and c.1785 T>G in the BRAF gene has been reported in association with cardio-facio-cutaneous syndrome (Schulz et al., 2008 and Rodriguez-Viciana et al., 2006). This amino acid substitution occurs at a highly conserved residue of the protein. Many other missense mutations (N580D, N581D, G596V, L597V, T599A) have been reported in surrounding residues. The F595L mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in NOONAN panel(s).
Invitae RCV001212304 SCV001383884 pathogenic RASopathy 2021-07-13 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000437147 SCV000505588 likely pathogenic Melanoma 2015-07-14 no assertion criteria provided literature only

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