ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.89G>A (p.Arg30Gln)

dbSNP: rs1554276653
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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 RCV000540862 SCV000653606 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-01-28 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Arg30 amino acid residue in CARD11. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28826773, 30170123). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects CARD11 function (PMID: 30170123). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 473939). This missense change has been observed in individual(s) with CARD11-related immunodeficiency (PMID: 30170123). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 30 of the CARD11 protein (p.Arg30Gln).

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