Submissions for variant NM_000314.7(PTEN):c.414T>G (p.Tyr138Ter) (rs1554898161)

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
GeneDx	RCV000657582	SCV000779319	pathogenic	not provided	2018-04-17	criteria provided, single submitter	clinical testing	This variant is denoted PTEN c.414T>G at the cDNA level and p.Tyr138Ter (Y138X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae	RCV000699906	SCV000828637	pathogenic	PTEN hamartoma tumor syndrome	2018-05-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr138*) in the PTEN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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.

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.