ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3019+5G>A

gnomAD frequency: 0.00002  dbSNP: rs752816910
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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 RCV001992658 SCV002225786 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2021-08-11 criteria provided, single submitter clinical testing This sequence change falls in intron 22 of the CARD11 gene. It does not directly change the encoded amino acid sequence of the CARD11 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs752816910, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV003228034 SCV003925656 uncertain significance Immunodeficiency 11b with atopic dermatitis 2023-04-24 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM2_SUP

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