Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001987558 | SCV002223346 | pathogenic | Autoimmune lymphoproliferative syndrome type 1 | 2021-03-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg105*) in the FAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAS are known to be pathogenic (PMID: 10875918, 22237435). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FAS-related conditions. For these reasons, this variant has been classified as Pathogenic. |