ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3735_3769del (p.Thr1247fs)

dbSNP: rs1558392228
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702506 SCV000831362 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-04-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant has not been reported in the literature in individuals with MSH6-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1247Lysfs*16) in the MSH6 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003453492 SCV004185704 pathogenic Lynch syndrome 5 2023-08-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift 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.