ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)

gnomAD frequency: 0.00004  dbSNP: rs533554769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227838 SCV000288831 uncertain significance RASopathy 2023-01-21 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: 240119). This variant has not been reported in the literature in individuals affected with CBL-related conditions. This variant is present in population databases (rs533554769, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 504 of the CBL protein (p.Pro504Leu).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000592226 SCV000709713 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: VUS in ClinVar by Invitae; 7/246262 total chrs in GnomAd; not in hgmd or google search; predicted benign and not conserved. Identified in 1 individual with HCM.
Fulgent Genetics, Fulgent Genetics RCV002500788 SCV002792641 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2021-10-11 criteria provided, single submitter clinical testing

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