ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) (rs397516895)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037929 SCV000061594 pathogenic Cardio-facio-cutaneous syndrome 2011-03-24 criteria provided, single submitter clinical testing The Asn581Lys variant has been reported in the literature as a de novo variant i n one individual with the clinical features of Cardio-facio-cutaneous syndrome ( Nava 2007). Therefore, this variant is highly likely to be pathogenic.
GeneDx RCV000524048 SCV000620186 likely pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The N581K variant has been published previously as apparently de novo in association with cardio-facio-cutaneous (CFC) syndrome (Nava et al., 2007). The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). N581K is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position within the protein kinase catalytic loop that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same residue (N581D) and in nearby residues (N580D) have been reported in the Human Gene Mutation Database in association with CFC syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, this variant is likely pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763165 SCV000893752 likely pathogenic Cardiofaciocutaneous syndrome 1; Lung cancer; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 2018-10-31 criteria provided, single submitter clinical testing

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.