ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.723dup (p.Glu242Ter) (rs1060500115)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457162 SCV000541595 pathogenic PTEN hamartoma tumor syndrome 2016-12-20 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 7 of the PTEN mRNA (c.723dupT), causing a frameshift at codon 242. This creates a premature translational stop signal (p.Glu242*) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic. This particular variant has been reported de novo in the literature in an individual affected with Bannayan-Ruvalcaba-Riley syndrome (PMID: 16952599). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491549 SCV000579974 pathogenic Hereditary cancer-predisposing syndrome 2015-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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.