ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1640A>G (p.Asn547Ser) (rs267607967)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506572 SCV000604257 uncertain significance not specified 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000411811 SCV000488111 uncertain significance Lynch syndrome I 2015-12-29 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076210 SCV000107227 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000697749 SCV000826377 uncertain significance Hereditary nonpolyposis colon cancer 2018-05-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 547 of the MSH2 protein (p.Asn547Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs267607967, ExAC 0.01%). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 90713). An algorithm developed specifically for the MSH2 gene suggests that this missense change is likely to be tolerated (PMID: 22290698). However, experimental study has shown that this missense change abrogates the mismatch repair activity of the MSH2 protein (PMID: 18227862). 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.