ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1027C>T (p.Arg343Ter)

gnomAD frequency: 0.00001  dbSNP: rs765471101
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919275 SCV002189887 uncertain significance RASopathy 2024-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg343*) in the CBL gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CBL cause disease. This variant is present in population databases (rs765471101, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1421913). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004529051 SCV004105809 uncertain significance CBL-related disorder 2022-10-17 criteria provided, single submitter clinical testing The CBL c.1027C>T variant is predicted to result in premature protein termination (p.Arg343*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-119148486-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV003442963 SCV004169975 uncertain significance not provided 2023-05-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35173275)
Fulgent Genetics, Fulgent Genetics RCV005042525 SCV005680588 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2024-03-13 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.