ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1649G>A (p.Arg550Gln)

gnomAD frequency: 0.00001  dbSNP: rs1949973841
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300511 SCV001489654 uncertain significance RASopathy 2020-03-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CBL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces arginine with glutamine at codon 550 of the CBL protein (p.Arg550Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.
Ambry Genetics RCV004994388 SCV005545848 uncertain significance Cardiovascular phenotype 2024-12-04 criteria provided, single submitter clinical testing The p.R550Q variant (also known as c.1649G>A), located in coding exon 11 of the CBL gene, results from a G to A substitution at nucleotide position 1649. The arginine at codon 550 is replaced by glutamine, 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 variant remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579868 SCV001808786 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579868 SCV001925159 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579868 SCV001966437 uncertain significance not provided no assertion criteria provided clinical testing

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