ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.368G>A (p.Gly123Asp)

dbSNP: rs571517554
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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 RCV001850281 SCV002245764 pathogenic Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-08-16 criteria provided, single submitter clinical testing This variant disrupts the p.Gly123 amino acid residue in CARD11. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23129749, 26861442, 29472930). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CARD11 function (PMID: 23149938, 25352053). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 183144). This missense change has been observed in individual(s) with autosomal dominant B-cell expansion with NFKB and T-cell anergy (BENTA) (PMID: 25352053). In at least one individual the variant was observed to be de novo. This variant is present in population databases (rs571517554, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 123 of the CARD11 protein (p.Gly123Asp).
OMIM RCV000162028 SCV000211955 pathogenic BENTA disease 2014-10-29 no assertion criteria provided literature only

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