ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2656G>A (p.Glu886Lys)

gnomAD frequency: 0.00001  dbSNP: rs1435757249
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001991705 SCV002280566 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. 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. This variant has not been reported in the literature in individuals with CBL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 886 of the CBL protein (p.Glu886Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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