ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.83_88GCGCCG[1] (p.28_29GA[1]) (rs397507458)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033270 SCV000057175 uncertain significance Rasopathy 2014-01-29 criteria provided, single submitter clinical testing c.89_100del12: p.Gly30_Ala33delGlyAlaGlyAla (G30_A33delGAGA) in exon 1 of the BRAF gene (NM_004333.4)The c.89_100del12 in-frame deletion in the BRAF gene has not been reported as a disease-causing mutation, nor is it known to be a benign polymorphism to our knowledge. This deletion occurs in a region of the protein that is not highly conserved in mammals and no disease-causing mutation has been reported before codon Threonine 241. Most disease-causing mutations result in a gain-of-function. It is uncertain if this deletion would result in a gain-of-function, loss-of-function, or have no impact on protein function at all. Therefore, this variant cannot be interpreted for diagnosis or used for genetic counseling without further studies. The variant is found in NOONAN panel(s).
Integrated Genetics/Laboratory Corporation of America RCV000589404 SCV000698347 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing Variant summary: The BRAF c.89_100delGCGCCGGCGCCG (p.Gly30_Ala33del) variant causes an in-frame deletion. This variant is absent in 10494 control chromosomes (ExAC), but was present in 1/10568 chromosomes when filtered (non-PASS) variants were included. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional implications by in vivo/vitro studies. A clinical diagnostic laboratory classifies the variant as "uncertain significance." Therefore, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information (ie, clinical and functional studies) become available.
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761092 SCV000891007 uncertain significance B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 2016-08-10 no assertion criteria provided clinical testing

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