Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001063023 | SCV001227853 | pathogenic | PTEN hamartoma tumor syndrome | 2019-05-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). This variant has been observed to segregate with clinical features of PTEN hamartoma tumor syndrome in a family (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala79Glnfs*3) in the PTEN gene. It is expected to result in an absent or disrupted protein product. |