ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.597_599del (p.Met199_Phe200delinsIle) (rs1564837980)

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 RCV000705156 SCV000834141 uncertain significance PTEN hamartoma tumor syndrome 2019-11-03 criteria provided, single submitter clinical testing This variant, c.597_599delGTT, results in the deletion of 2 amino acids and the insertion of 1 amino acid in the PTEN protein (p.Met199_Phe200delinsIle), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with PTEN-related conditions (PMID: 25288137, 21194675, 21659347). ClinVar contains an entry for this variant (Variation ID: 581354). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted and inserted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.