ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) (rs121913376)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033308 SCV000057213 likely pathogenic not provided 2012-05-29 criteria provided, single submitter clinical testing TheV471F missense mutation in the BRAF gene hasbeen reported previously in association with cardio-facio-cutaneous syndrome (CFC) (Abe et al., 2012). The V471F amino acid substitution is conservative as a both Valine and Phenylalanine residues are neutral and non-polar. The position at which this substitution occurs is highly conserved and many other missense mutations (S467A, F468S, G469E, L485F, L485S) have been reported in nearby codons in association with cardio-facio-cutaneous syndrome (CFC) (Rodriguez-Viciana et al., 2006; Niihori et al., 2006; Rodriguez-Viciana et al., 2008; Aoki et al., 2008). The variant is found in NOONAN panel(s).
Invitae RCV000654957 SCV000776865 uncertain significance Rasopathy 2017-09-21 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 471 of the BRAF protein (p.Val471Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with cardio-facio-cutaneous syndrome (PMID: 22495831). ClinVar contains an entry for this variant (Variation ID: 40367). An experimental study has shown that this missense change may alter the activity of the BRAF protein in cell culture (PMID: 25348715). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Database of Curated Mutations (DoCM) RCV000417719 SCV000505595 likely pathogenic Cutaneous melanoma 2015-07-14 no assertion criteria provided literature only

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