ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys)

gnomAD frequency: 0.00028  dbSNP: rs201847585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091305 SCV001247250 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Invitae RCV001225546 SCV001397829 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505671 SCV002815811 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis 2022-03-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003433012 SCV004118397 uncertain significance CARD11-related condition 2023-12-05 criteria provided, single submitter clinical testing The CARD11 c.2920C>T variant is predicted to result in the amino acid substitution p.Arg974Cys. This variant has been reported in the heterozygous state in at least three patients with immunodeficiency or dysregulatory phenotypes (Béziat et al. 2019. PubMed ID: 30659853; Dorjbal et al. 2019. PubMed ID: 30170123). This variant is reported in 0.054% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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