ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.812G>T (p.Gly271Val)

dbSNP: rs1583364867
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001027205 SCV001189723 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-01 criteria provided, single submitter clinical testing The p.G271V variant (also known as c.812G>T), located in coding exon 8 of the PMS2 gene, results from a G to T substitution at nucleotide position 812. The glycine at codon 271 is replaced by valine, an amino acid with dissimilar properties. This alteration was detected in a homozygous state in two siblings with a clinical diagnosis of constitutional mismatch repair deficiency (Kruger S et al. Eur. J. Hum. Genet. 2008 Jan;16(1):62-72). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.