ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2805dup (p.Asp936Ter) (rs876659189)

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
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500957 SCV000592614 pathogenic Lynch syndrome criteria provided, single submitter clinical testing
GeneDx RCV000657831 SCV000779587 pathogenic not provided 2017-10-13 criteria provided, single submitter clinical testing This duplication of one nucleotide is denoted MSH6 c.2805dupT at the cDNA level and p.Asp936Ter (D936X) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ACTC[dupT]GATT. The duplication creates a nonsense variant, which changes an Aspartic Acid to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Ambry Genetics RCV001016632 SCV001177605 pathogenic Hereditary cancer-predisposing syndrome 2018-07-09 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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.