ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.7G>A (p.Ala3Thr)

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 RCV002357981 SCV002660053 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-21 criteria provided, single submitter clinical testing The c.-5C>T variant is located in the 5' untranslated region (5’ UTR) of the MUTYH gene. This variant results from a C to T substitution 5 bases upstream from the first translated codon. This nucleotide 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.