ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2433A>G (p.Thr811=)

gnomAD frequency: 0.00001  dbSNP: rs200566020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813652 SCV002060758 uncertain significance Noonan syndrome and Noonan-related syndrome 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885297 SCV002126537 uncertain significance RASopathy 2022-09-01 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1334237). This variant has not been reported in the literature in individuals affected with CBL-related conditions. This variant is present in population databases (rs200566020, gnomAD 0.0009%). This sequence change affects codon 811 of the CBL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CBL protein. It affects a nucleotide within the consensus splice site.

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