ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) (rs113488022)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000433794 SCV000504247 pathogenic Cutaneous melanoma 2014-10-02 no assertion criteria provided literature only
GeneReviews RCV000208774 SCV000264637 pathogenic Cardio-facio-cutaneous syndrome 2016-03-03 no assertion criteria provided literature only
Invitae RCV000798913 SCV000938556 uncertain significance Rasopathy 2018-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 600 of the BRAF protein (p.Val600Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo inÂ¬â€ an individual affected withÂ¬â€ cardio-facio-cutaneous syndromeÂ¬â€ (PMID: 20735442). ClinVar contains an entry for this variant (Variation ID: 40389). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
