Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000814409 | SCV000954818 | uncertain significance | Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease | 2022-10-25 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 657734). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 959 of the CARD11 protein (p.Ser959Gly). |
Baylor Genetics | RCV001336763 | SCV001530238 | uncertain significance | BENTA disease | 2018-03-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ce |
RCV004808891 | SCV005435562 | uncertain significance | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | CARD11: PM2, BP4 |