ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021290 SCV001182888 likely pathogenic Hereditary cancer-predisposing syndrome 2019-08-23 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Other data supporting pathogenic classification;Rarity in general population databases (dbsnp, esp, 1000 genomes);Structural Evidence
Invitae RCV001046018 SCV001209899 uncertain significance Hereditary nonpolyposis colon cancer 2019-02-08 criteria provided, single submitter clinical testing This variant, c.3851_3871del, results in the deletion of 7 amino acid(s) of the MSH6 protein (p.Thr1284_Ile1290del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.