ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2034C>T (p.Ala678=)

gnomAD frequency: 0.00001  dbSNP: rs1949996840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182712 SCV002344858 likely benign RASopathy 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004603156 SCV005098188 likely benign Cardiovascular phenotype 2024-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genomics Laboratory, Stanford Medicine RCV004820907 SCV005441795 uncertain significance CBL-related disorder 2022-08-08 criteria provided, single submitter clinical testing The p.Ala678= variant in the CBL gene has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). This variant is present in ClinVar (Variation ID: 1549482). The p.Ala678= variant is a synonymous variant which is not expected to alter the CBL protein. Computational splicing tools do not agree on the predicted impact to splicing; however, the accuracy of in silico algorithms is limited. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Ala678= variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2]

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