ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)

dbSNP: rs1950085952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002033152 SCV002116117 uncertain significance RASopathy 2023-05-16 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: 1347603). This variant has not been reported in the literature in individuals affected with CBL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 834 of the CBL protein (p.Glu834Asp).
Fulgent Genetics, Fulgent Genetics RCV002503352 SCV002778310 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2021-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038771 SCV005022972 uncertain significance Cardiovascular phenotype 2024-01-29 criteria provided, single submitter clinical testing The p.E834D variant (also known as c.2502A>T), located in coding exon 16 of the CBL gene, results from an A to T substitution at nucleotide position 2502. The glutamic acid at codon 834 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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