ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.617TGG[1] (p.Val207del)

dbSNP: rs1570409746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025963 SCV001188253 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-08 criteria provided, single submitter clinical testing The c.704_706delTGG variant (also known as p.V235del) is located in coding exon 9 of the MUTYH gene. This variant results from an in-frame TGG deletion at nucleotide positions 704 to 706. This results in the in-frame deletion of a valine at codon 235. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.