ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter)

dbSNP: rs878853736
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
Invitae RCV000232271 SCV000283815 pathogenic Lynch syndrome 2015-12-28 criteria provided, single submitter clinical testing This sequence change duplicates 5 nucleotides in exon 8 of the MSH6 mRNA (c.3717_3721dupAAAAT), causing a frameshift at codon 1241. This creates a premature translational stop signal (p.Cys1241*) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001386273 SCV001586442 pathogenic Hereditary nonpolyposis colorectal neoplasms 2015-12-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). This sequence change duplicates 5 nucleotides in exon 8 of the MSH6 mRNA (c.3717_3721dupAAAAT), causing a frameshift at codon 1241. This creates a premature translational stop signal (p.Cys1241*) and is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002347859 SCV002623112 pathogenic Hereditary cancer-predisposing syndrome 2019-07-08 criteria provided, single submitter clinical testing The c.3717_3721dupAAAAT pathogenic mutation, located in coding exon 8 of the MSH6 gene, results from a duplication of AAAAT at nucleotide position 3717, causing a translational frameshift with a predicted alternate stop codon (p.C1241*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.