Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000795219 | SCV000934665 | uncertain significance | Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease | 2018-08-26 | 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 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"). This variant has not been reported in the literature in individuals with CARD11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 352 of the CARD11 protein (p.Ser352Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. |
| Gene |
RCV004783860 | SCV005396852 | uncertain significance | not provided | 2024-05-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene (PMID: 30170123) |