Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090366 | SCV001245873 | likely pathogenic | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090366 | SCV001386699 | pathogenic | not provided | 2019-05-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TYMP are known to be pathogenic (PMID: 9924029, 15781193). This variant has not been reported in the literature in individuals with TYMP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr92Profs*51) in the TYMP gene. It is expected to result in an absent or disrupted protein product. |