Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823963 | SCV000964838 | pathogenic | PTEN hamartoma tumor syndrome | 2019-06-14 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the PTEN gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PTEN-related disease. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic. |