Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461142 | SCV000563787 | pathogenic | PTEN hamartoma tumor syndrome | 2016-09-20 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 2 of the PTEN gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic. This particular variant has been reported in the literature in many individuals affected with PTEN hamartoma tumor syndrome (PMID: 20600018, 21956414, 22266152, 23470840, 24778394). For these reasons, this variant has been classified as Pathogenic. |