ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2683del (p.Leu895fs)

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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 RCV003792474 SCV004590039 pathogenic Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu895Phefs*19) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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