ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2047G>A (p.Val683Met)

dbSNP: rs2135319783
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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 RCV003655344 SCV004377640 uncertain significance RASopathy 2023-04-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 1336883). This variant has not been reported in the literature in individuals affected with CBL-related conditions. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 683 of the CBL protein (p.Val683Met).
Genetic Services Laboratory, University of Chicago RCV001819369 SCV002065711 uncertain significance not specified 2018-10-24 criteria provided, single submitter clinical testing

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