Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004578643 | SCV005066144 | uncertain significance | Proteosome-associated autoinflammatory syndrome | 2023-03-10 | 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. This variant has not been reported in the literature in individuals affected with PSMB8-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the PSMB8 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. |
| Labcorp Genetics |
RCV004578642 | SCV005066158 | pathogenic | MHC class I deficiency | 2023-10-05 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TAP2 gene has been identified. Loss-of-function variants in TAP2 are known to be pathogenic (PMID: 7517574, 11529920, 12067308, 23662797). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with TAP2-related conditions. For these reasons, this variant has been classified as Pathogenic. |