ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.271A>G (p.Thr91Ala)

gnomAD frequency: 0.00001  dbSNP: rs587778160
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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 RCV003539790 SCV004268042 uncertain significance RASopathy 2024-04-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 91 of the CBL protein (p.Thr91Ala). This variant is present in population databases (rs587778160, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 133814). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CBL protein function. 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.
ITMI RCV000120466 SCV000084619 not provided not specified 2013-09-19 no assertion provided reference population

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