ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2671C>T (p.Arg891Ter)

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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 RCV003782356 SCV004577765 pathogenic Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-02-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of CARD11-related conditions (PMID: 25087226). This variant is present in population databases (rs750486472, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg891*) 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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