ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) (rs267608092)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130275 SCV000185120 pathogenic Hereditary cancer-predisposing syndrome 2018-10-31 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503173 SCV000592635 pathogenic Lynch syndrome criteria provided, single submitter clinical testing
Invitae RCV000545922 SCV000624844 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1105Trpfs*3) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with Lynch syndrome (PMID: 21642682) and an individual affected with gliobastomas (PMID: 28922847). This variant is also known as c.3305_3306insT (p.1102-fs-insT) in the literature. ClinVar contains an entry for this variant (Variation ID: 141667). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Color RCV000130275 SCV000690344 pathogenic Hereditary cancer-predisposing syndrome 2016-10-12 criteria provided, single submitter clinical testing
ITMI RCV000121582 SCV000085778 not provided not specified 2013-09-19 no assertion provided reference population

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.