ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)

dbSNP: rs1114167854
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
Labcorp Genetics (formerly Invitae), Labcorp RCV003112120 SCV003786383 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser586*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 31054147). For these reasons, this variant has been classified as Pathogenic.
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330111 SCV004037211 pathogenic Lynch syndrome 1; Muir-Torré syndrome 2022-06-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003455763 SCV004186954 pathogenic Lynch syndrome 1 2023-08-03 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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.