ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1547T>C (p.Leu516Pro)

dbSNP: rs2496951781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002603725 SCV003502538 uncertain significance RASopathy 2022-08-23 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 affected with CBL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 516 of the CBL protein (p.Leu516Pro).
PreventionGenetics, part of Exact Sciences RCV004529214 SCV004106848 uncertain significance CBL-related disorder 2023-08-10 criteria provided, single submitter clinical testing The CBL c.1547T>C variant is predicted to result in the amino acid substitution p.Leu516Pro. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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