ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2143-11_2143-10del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002933557 SCV003269534 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-05-20 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. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change falls in intron 16 of the CARD11 gene. It does not directly change the encoded amino acid sequence of the CARD11 protein. This variant has not been reported in the literature in individuals affected with CARD11-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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