Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001051527 | SCV001215684 | pathogenic | Immunodeficiency 18 | 2019-07-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CD3E are known to be pathogenic (PMID: 8490660, 15546002). This variant has not been reported in the literature in individuals with CD3E-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser88Argfs*32) in the CD3E gene. It is expected to result in an absent or disrupted protein product. |