Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000485315 | SCV000569668 | likely pathogenic | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV002525849 | SCV003010533 | pathogenic | MHC class II deficiency | 2022-09-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 420718). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln764Serfs*30) in the CIITA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CIITA are known to be pathogenic (PMID: 8402893, 9099848, 26271388). |
| Fulgent Genetics, |
RCV005018806 | SCV005643456 | likely pathogenic | Rheumatoid arthritis; MHC class II deficiency 1 | 2024-06-08 | criteria provided, single submitter | clinical testing |