ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.140G>A (p.Arg47His)

dbSNP: rs765680532
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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 RCV000651145 SCV000772995 pathogenic Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-01-06 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CARD11 function (PMID: 30170123). ClinVar contains an entry for this variant (Variation ID: 540972). This missense change has been observed in individual(s) with clinical features of autosomal dominant immunodeficiency with atopic disease (PMID: 30170123; Invitae). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs765680532, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 47 of the CARD11 protein (p.Arg47His).
GeneDx RCV004719916 SCV005326075 likely pathogenic not provided 2023-11-02 criteria provided, single submitter clinical testing Published functional studies suggest a dominant negative effect (PMID: 30170123); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33202260, 30170123)

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