ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1637dup (p.Asn547fs)

dbSNP: rs1553366642
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000616850 SCV000731686 pathogenic Lynch syndrome 2017-06-23 criteria provided, single submitter clinical testing The p.Asn547GlufsX4 (NM_000251.2 c.1637_1638insA) variant in MSH2 has not been p reviously reported in individuals with Lynch syndrome and was absent from large population studies. This variant is predicted to cause a frameshift, which alter s the protein?s amino acid sequence beginning at position 547 and leads to a pre mature termination codon 4 amino acids downstream. This alteration is then predi cted to lead to a truncated or absent protein. Heterozygous loss of function of the MSH2 gene is an established disease mechanism in individuals with Lynch synd rome. In summary, this variant meets criteria to be classified as pathogenic for Lynch syndrome in an autosomal dominant manner based upon the predicted impact to the protein.

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.