ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2918G>A (p.Arg973His)

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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 RCV002595702 SCV003497608 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-01-05 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is present in population databases (rs141681466, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 973 of the CARD11 protein (p.Arg973His).
Revvity Omics, Revvity RCV003143502 SCV003830582 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing

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