Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV004580418 | SCV005065701 | pathogenic | Autoimmune lymphoproliferative syndrome type 1 | 2024-01-20 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the FAS 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 FAS are known to be pathogenic (PMID: 10875918, 22237435). This variant has not been reported in the literature in individuals affected with FAS-related conditions. For these reasons, this variant has been classified as Pathogenic. |