ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)

gnomAD frequency: 0.00006  dbSNP: rs187952822
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654963 SCV000776873 likely benign RASopathy 2023-11-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813541 SCV002060748 uncertain significance Noonan syndrome and Noonan-related syndrome 2017-08-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816651 SCV002068613 uncertain significance not specified 2019-02-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144457 SCV003829285 uncertain significance not provided 2019-09-03 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003325210 SCV004031190 uncertain significance CBL-related disorder 2023-06-20 criteria provided, single submitter clinical testing The CBL c.1753C>T (p.Arg585Cys) missense change has a maximum subpopulation frequency of 0.014% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. A variant affecting the same residue, p.R585L, has been reported in an individual with neonatal hypertrophic cardiomyopathy who also harbored a pathogenic variant in the PTPN11 gene (PMID: 25731833). To our knowledge, this variant has not been reported in individuals with juvenile myelomonocytic leukemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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