ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.508A>C (p.Ser170Arg) (rs1554900534)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689896 SCV000817566 pathogenic PTEN hamartoma tumor syndrome 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 170 of the PTEN protein (p.Ser170Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (PMID: 21194675, 21659347, 10400993, 20712882, 23117110, 17526800, 9467011). ClinVar contains an entry for this variant (Variation ID: 569301). Experimental studies have shown that this missense change disrupts PTEN function (PMID: 21828076, 9256433, 10866302, 17942903). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.