ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) (rs121913338)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796335 SCV000935844 uncertain significance Rasopathy 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 594 of the BRAF protein (p.Asp594Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with cardio-facio-cutaneous syndrome (PMID: 18413255). ClinVar contains an entry for this variant (Variation ID: 375946). This variant has been reported to affect BRAF protein function (PMID: 18413255, 20141835, 19376813, 19735675). 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) RCV000421094 SCV000504289 pathogenic Neoplasm of the large intestine 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434803 SCV000504290 pathogenic Cutaneous melanoma 2015-07-14 no assertion criteria provided literature only
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824925 SCV000965957 uncertain significance Cardio-facio-cutaneous syndrome no assertion criteria provided clinical testing

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