ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.793C>T (p.Gln265Ter)

dbSNP: rs2115075086
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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 RCV001382589 SCV001581430 pathogenic Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2020-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln265*) in the CARD11 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CARD11 are known to be pathogenic (PMID: 23374270, 23561803, 26289640). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, 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 not present in population databases (ExAC no frequency).

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