ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2513G>T (p.Gly838Val)

gnomAD frequency: 0.00014  dbSNP: rs144191570
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500878 SCV000593865 uncertain significance not specified 2016-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000529564 SCV000659115 likely benign RASopathy 2023-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761809 SCV000892010 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CBL: BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000500878 SCV001338611 uncertain significance not specified 2020-04-27 criteria provided, single submitter clinical testing Variant summary: CBL c.2513G>T (p.Gly838Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.7e-05 in 251466 control chromosomes, predominantly at a frequency of 0.00023 within the South Asian subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2513G>T in individuals affected with Noonan Syndrome And Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813486 SCV002060762 uncertain significance Noonan syndrome and Noonan-related syndrome 2021-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438216 SCV002745209 uncertain significance Cardiovascular phenotype 2024-04-28 criteria provided, single submitter clinical testing The p.G838V variant (also known as c.2513G>T), located in coding exon 16 of the CBL gene, results from a G to T substitution at nucleotide position 2513. The glycine at codon 838 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506221 SCV002806187 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2021-12-05 criteria provided, single submitter clinical testing

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