ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1940+6C>G

gnomAD frequency: 0.00004  dbSNP: rs779299079
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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 RCV001050597 SCV001214712 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2019-02-26 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. Nucleotide substitutions within 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CARD11-related conditions. This variant is present in population databases (rs779299079, ExAC 0.01%). This sequence change falls in intron 15 of the CARD11 gene. It does not directly change the encoded amino acid sequence of the CARD11 protein, but it affects a nucleotide within the consensus splice site of the intron.

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