ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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
OMIM RCV000015014 SCV000035270 pathogenic Cardiofaciocutaneous syndrome 1 2006-08-01 no assertion criteria provided literature only
GeneReviews RCV000208775 SCV000264634 pathogenic Cardio-facio-cutaneous syndrome 2016-03-03 no assertion criteria provided literature only
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

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