Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000825516 | SCV000966828 | likely pathogenic | MHC class II deficiency | 2017-09-20 | criteria provided, single submitter | clinical testing | The p.Leu114ProfsX13 variant in CIITA has not been previously reported in indivi duals with bare lymphocyte syndrome (also known as MHC class II immunodeficiency ) and was absent from large population studies. This variant is predicted to cau se a frameshift, which alters the protein?s amino acid sequence beginning at pos ition 114 and leads to a premature termination codon 13 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Bial lelic loss of function of the CIITA gene has been associated with bare lymphocyt e syndrome/immunodeficiency. In summary, although additional studies are require d to fully establish its clinical significance, the p.Leu114ProfsX13 variant is likely pathogenic for bare lymphocyte syndrome/immunodeficiency in an autosomal recessive manner based on a predicted variant effect. |
| Fulgent Genetics, |
RCV005012382 | SCV005643449 | likely pathogenic | Rheumatoid arthritis; MHC class II deficiency 1 | 2024-04-03 | criteria provided, single submitter | clinical testing |