Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056209 | SCV001220637 | pathogenic | PTEN hamartoma tumor syndrome | 2019-11-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser59*) in the PTEN gene. It is expected to result in an absent or disrupted protein product. This nonsense change has been observed in individual(s) with Cowden’s syndrome (PMID: 30482242). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). |