Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227838 | SCV000288831 | uncertain significance | RASopathy | 2023-01-21 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CBL protein function. ClinVar contains an entry for this variant (Variation ID: 240119). This variant has not been reported in the literature in individuals affected with CBL-related conditions. This variant is present in population databases (rs533554769, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 504 of the CBL protein (p.Pro504Leu). |
Laboratory for Molecular Medicine, |
RCV000592226 | SCV000709713 | uncertain significance | not specified | 2018-03-06 | criteria provided, single submitter | clinical testing | Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: VUS in ClinVar by Invitae; 7/246262 total chrs in GnomAd; not in hgmd or google search; predicted benign and not conserved. Identified in 1 individual with HCM. |
Fulgent Genetics, |
RCV002500788 | SCV002792641 | uncertain significance | Juvenile myelomonocytic leukemia; CBL-related disorder | 2021-10-11 | criteria provided, single submitter | clinical testing |