Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV004582532 | SCV005067893 | pathogenic | Autoimmune lymphoproliferative syndrome type 2B | 2024-01-09 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the CASP8 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CASP8 are known to be pathogenic (PMID: 12353035, 25814141). This variant has not been reported in the literature in individuals affected with CASP8-related conditions. For these reasons, this variant has been classified as Pathogenic. |