ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)

gnomAD frequency: 0.00004  dbSNP: rs143975631
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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 RCV000231078 SCV000288835 likely benign RASopathy 2024-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487074 SCV002780832 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2021-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298302 SCV004001657 uncertain significance Cardiovascular phenotype 2023-04-28 criteria provided, single submitter clinical testing The p.E695K variant (also known as c.2083G>A), located in coding exon 13 of the CBL gene, results from a G to A substitution at nucleotide position 2083. The glutamic acid at codon 695 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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