ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup)

dbSNP: rs727502902
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150195 SCV000197117 pathogenic Non-small cell lung carcinoma; Neoplasm of the large intestine 2013-06-20 criteria provided, single submitter clinical testing The Thr599dup variant has been observed in a number of tumor types, including an aplastic thyroid carcinoma, melanoma, pancreatic adenocarcinoma and pilocytic as trocytomas (Jones 2009, Kubo 2009, Yu 2009, Eisenhardt 2011, Gauchotte 2011, Lon g 2011, Menzies 2012). In addition, it has been reported to have similar kinase activity as the BRAF Val600Glu variant (Eisenhardt 2011).
CeGaT Center for Human Genetics Tuebingen RCV001091496 SCV001247574 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Institute for Genomic Medicine, Nationwide Children's Hospital RCV000515781 SCV000611854 pathogenic Childhood ganglioglioma 2017-10-09 no assertion criteria provided research The duplication of three nucleotides (c.1794_1796TAC) is a nonframeshift variant that results in addition of a Threonine residue between Thr599 and Val600 in BRAF. In vitro studies of this variant demonstrated an increased kinase activity and cellular MEK/ERK activation potential comparable to that of BRAF V600E (Eisenhardt et al., 2011). Presumably, the insertion of an additional Threonine residue at this position destabilizes the inactive conformation of the BRAF kinase domain.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001091496 SCV001553093 uncertain significance not provided no assertion criteria provided clinical testing

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