ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1661_1663del (p.Pro554del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003813403 SCV004610106 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-08-14 criteria provided, single submitter clinical testing This variant, c.1661_1663del, results in the deletion of 1 amino acid(s) of the CARD11 protein (p.Pro554del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has been observed in individual(s) with CARD11-related conditions (PMID: 33202260). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
CeGaT Center for Human Genetics Tuebingen RCV004585067 SCV005074127 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing CARD11: PM4:Supporting

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