ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.1467G>C (p.Leu489Phe) (rs1553610155)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Molecular Biology Lab,Hospital Juan P Garrahan RCV000766205 SCV000897639 uncertain significance Noonan syndrome 5 no assertion criteria provided clinical testing The c.1467G>C variant was neither found in ExAC nor in 1000 Genomes databases. It was submitted to different bioinformatic tools (Mutation Taster, PolyPhen2, and SIFT), was considered to be probably damaging (score 0.997) by PolyPhen2, disease causing by Mutation Taster and deleterious (score -3.605) by SIFT. This variant is described in COSMIC database, it was detected in skin tissue from a patient with malignant melanoma (COSM5398071).

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