Submissions for variant NM_000314.7(PTEN):c.685T>A (p.Ser229Thr) (rs587781998)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 5

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000130411	SCV000185273	uncertain significance	Hereditary cancer-predisposing syndrome	2015-07-02	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000179748	SCV000232047	uncertain significance	not provided	2015-04-17	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc	RCV000660236	SCV000782242	uncertain significance	Cowden syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000696843	SCV000825422	uncertain significance	PTEN hamartoma tumor syndrome	2018-06-18	criteria provided, single submitter	clinical testing	This sequence change replaces serine with threonine at codon 229 of the PTEN protein (p.Ser229Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. 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. ClinVar contains an entry for this variant (Variation ID: 141771). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000179748	SCV000889805	uncertain significance	not provided	2018-05-02	criteria provided, single submitter	clinical testing

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.