ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1842del (p.Cys615fs) (rs730881825)

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
GeneDx RCV000767215 SCV000211380 pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing The c.1842delC mutation in the MSH6 gene has not been published previously as a disease-causing mutation, to our knowledge. It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. A large number of other frameshift and pathogenic loss-of-function mutations in this gene have been reported in patients with Lynch syndrome and other cancer predisposition syndromes. Therefore, based on the ACMG recommendations, c.1842delC is interpreted as an expected pathogenic sequence change.
Invitae RCV000458629 SCV000551222 pathogenic Lynch syndrome 2016-11-06 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the MSH6 mRNA (c.1842delC), causing a frameshift at codon 615. This creates a premature translational stop signal (p.Cys615Valfs*7) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000160741 SCV000664881 pathogenic Hereditary cancer-predisposing syndrome 2016-09-29 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000160741 SCV000685233 pathogenic Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing

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.