ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2662C>T (p.Arg888Cys)

gnomAD frequency: 0.00001  dbSNP: rs142828146
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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 RCV001036084 SCV001199432 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2019-11-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 888 of the CARD11 protein (p.Arg888Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant has not been reported in the literature in individuals with CARD11-related conditions. 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 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").

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