Submissions for variant NM_000535.7(PMS2):c.895C>A (p.Pro299Thr) (rs1562663421)

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	RCV000701484	SCV000830286	uncertain significance	Hereditary nonpolyposis colorectal neoplasms	2019-09-14	criteria provided, single submitter	clinical testing	This sequence change replaces proline with threonine at codon 299 of the PMS2 protein (p.Pro299Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline 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 PMS2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics	RCV001018544	SCV001179796	uncertain significance	Hereditary cancer-predisposing syndrome	2019-05-23	criteria provided, single submitter	clinical testing	Insufficient evidence

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.