ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.299A>C (p.Gln100Pro) (rs747771951)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165733 SCV000216474 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-08 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000470281 SCV000552054 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 100 of the PMS2 protein (p.Gln100Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. The frequency data for this variant (rs747771951) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 186187). 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000165733 SCV000686187 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-03 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.