ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)

gnomAD frequency: 0.00011  dbSNP: rs143132980
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154692 SCV000204370 uncertain significance not specified 2014-05-02 criteria provided, single submitter clinical testing The Arg787Cys variant in CBL has not been previously reported in individuals wit h Noonan syndrome, but has been identified in 1/8590 of European American chromo somes and in 2/4398 of African American chromosomes by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu; dbSNP rs143132980). Computational predi ction tools and conservation analysis suggest that the Arg787 variant may impact the protein, though this information is not predictive enough to determine path ogenicity. In summary, the clinical significance of the Arg787Cys variant is unc ertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000555815 SCV000659114 likely benign RASopathy 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813399 SCV002060757 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444637 SCV002734494 likely benign Cardiovascular phenotype 2021-09-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004544410 SCV004759001 likely benign CBL-related disorder 2022-12-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.