ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)

dbSNP: rs756530482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV001807536 SCV002054115 uncertain significance Stroke disorder 2021-12-05 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3
Fulgent Genetics, Fulgent Genetics RCV002482338 SCV002794533 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2021-10-07 criteria provided, single submitter clinical testing
Invitae RCV003772256 SCV004683551 uncertain significance RASopathy 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 415 of the CBL protein (p.Gly415Ser). This variant is present in population databases (rs756530482, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1332902). 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 with a negative predictive value of 95%. 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.

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