ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.799del (p.Leu267fs)

dbSNP: rs2115075051
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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 RCV002035356 SCV002227710 pathogenic Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2021-11-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu267Trpfs*10) in the CARD11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CARD11 are known to be pathogenic (PMID: 23374270, 23561803, 26289640).

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