Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531171 | SCV000645538 | pathogenic | PTEN hamartoma tumor syndrome | 2017-04-25 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 4-5 of the PTEN gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While deletion of exons 4-5 has not been reported in the literature, loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic. |