Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066458 | SCV001231469 | pathogenic | PTEN hamartoma tumor syndrome | 2021-08-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). Disruption of this splice site has been reported in individuals with clinical features of PTEN hamartoma tumor syndrome (PMID: 11886535, 23335809) This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 2 of the PTEN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |