Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047952 | SCV001211938 | pathogenic | Li-Fraumeni syndrome | 2019-11-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant has not been reported in the literature in individuals with TP53-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys141Trpfs*8) in the TP53 gene. It is expected to result in an absent or disrupted protein product. |
Laboratory of Virology, |
RCV003483763 | SCV004232085 | uncertain significance | Prostate cancer, hereditary, 1 | 2024-01-01 | no assertion criteria provided | clinical testing |