Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500878 | SCV000593865 | uncertain significance | not specified | 2016-10-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000529564 | SCV000659115 | likely benign | RASopathy | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
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, |
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, |
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, |
RCV002506221 | SCV002806187 | uncertain significance | Juvenile myelomonocytic leukemia; CBL-related disorder | 2021-12-05 | criteria provided, single submitter | clinical testing |