ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3999dup (p.Arg1334fs) (rs863225418)

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
Ambry Genetics RCV000491989 SCV000580095 pathogenic Hereditary cancer-predisposing syndrome 2020-04-22 criteria provided, single submitter clinical testing The c.3999dupT pathogenic mutation, located in coding exon 9 of the MSH6 gene, results from a duplication of T at nucleotide position 3999, causing a translational frameshift with a predicted alternate stop codon. This alteration had been identified in individuals with MSH6-deficient colon and/or endometrial cancers (Ambry internal data). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Color Health, Inc RCV000491989 SCV000904029 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000202009 SCV000257293 likely pathogenic not provided no assertion criteria provided 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.