ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3145-7C>G

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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 RCV002636347 SCV002973279 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-09-27 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 may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is present in population databases (rs776514719, gnomAD 0.003%). This sequence change falls in intron 23 of the CARD11 gene. It does not directly change the encoded amino acid sequence of the CARD11 protein.

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