ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) (rs180177041)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623633 SCV000742637 likely pathogenic Inborn genetic diseases 2017-07-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Dobyns Lab,Seattle Children's Research Institute RCV000779634 SCV000916311 pathogenic PHACE syndrome; Tethered cord; Genetic syndrome with a Dandy-Walker malformation as major feature 2019-02-18 no assertion criteria provided research
GeneReviews RCV000208775 SCV000264634 pathogenic Cardio-facio-cutaneous syndrome 2016-03-03 no assertion criteria provided literature only
Institute of Human Genetics,Klinikum rechts der Isar RCV000015014 SCV000680156 pathogenic Cardiofaciocutaneous syndrome 1 2017-09-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000208775 SCV000710865 likely pathogenic Cardio-facio-cutaneous syndrome 2016-07-01 criteria provided, single submitter clinical testing The p.Gly534Arg variant in BRAF has been previously identified in one individual with clinical features of a RASopathy and occurred de novo (Rauen 2006, Gripp 2 007). It is absent from large population studies. Computational prediction too ls and conservation analysis suggest that this variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, although additional studies are required to fully establish its clinical significance, the p.Gly534Arg variant is likely pathogenic.
OMIM RCV000015014 SCV000035270 pathogenic Cardiofaciocutaneous syndrome 1 2006-08-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.