ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.328A>G (p.Lys110Glu)

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 RCV002445814 SCV002611935 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-26 criteria provided, single submitter clinical testing The p.K110E variant (also known as c.328A>G), located in coding exon 2 of the MSH2 gene, results from an A to G substitution at nucleotide position 328. The lysine at codon 110 is replaced by glutamic acid, an amino acid with similar properties. In a massively parallel cell-based functional assay testing susceptibility to a DNA damaging agent, 6-thioguanine (6-TG), this variant was reported to be functionally deleterious (Jia X et al. Am J Hum Genet, 2021 01;108:163-175). 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.