ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.319G>T (p.Asp107Tyr) (rs57374291)

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
Ambry Genetics RCV000570318 SCV000671728 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Deficient protein function in appropriate functional assay(s),Insufficient evidence
Invitae RCV000690305 SCV000817987 uncertain significance PTEN hamartoma tumor syndrome 2018-10-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 107 of the PTEN protein (p.Asp107Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with PTEN hamartoma tumor syndrome (PMID: 23382303). ClinVar contains an entry for this variant (Variation ID: 484614). Experimental studies have shown that this missense change abolishes the phosphatase activity of the PTEN protein (PMID: 10866302, 11875759). The observation of one or more missense substitutions at this codon (p.Asp107Val) in affected individuals suggests that this may be a clinically significant residue (PMID: 28526761). 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.