Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090925 | SCV001246701 | pathogenic | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001231680 | SCV001404211 | pathogenic | Immunodeficiency, common variable, 10 | 2020-05-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with deficient anterior pituitary with variable immune deficiency (DAVID) syndrome (PMID: 31417880, 30941118). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the NFKB2 gene (p.Gln871*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acids of the NFKB2 protein. |
OMIM | RCV001231680 | SCV001439292 | pathogenic | Immunodeficiency, common variable, 10 | 2020-10-27 | no assertion criteria provided | literature only |