Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001947302 | SCV002133751 | pathogenic | Autoimmune lymphoproliferative syndrome type 1 | 2021-04-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FASLG-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the FASLG gene has been identified. Loss-of-function variants in FASLG are known to be pathogenic (PMID: 22857792, 25451160). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. |
| Labcorp Genetics |
RCV001947303 | SCV002174505 | uncertain significance | not provided | 2021-10-21 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the SUCO gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SUCO cause disease. 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 SUCO-related conditions. 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. |