ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)

gnomAD frequency: 0.00001  dbSNP: rs1465141746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026024 SCV002289564 uncertain significance RASopathy 2021-05-07 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. This sequence change replaces glycine with cysteine at codon 801 of the CBL protein (p.Gly801Cys). The glycine residue is weakly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CBL-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV002479744 SCV002790295 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2021-09-13 criteria provided, single submitter clinical testing

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