ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.5C>T (p.Ala2Val)

gnomAD frequency: 0.00001  dbSNP: rs748689064
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
Color Diagnostics, LLC DBA Color Health RCV001524468 SCV001734324 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-21 criteria provided, single submitter clinical testing This variant is located in the 5' untranslated region of the MUTYH gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/248948 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001524468 SCV002624445 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-28 criteria provided, single submitter clinical testing The c.-3G>A variant is located in the 5' untranslated region (5’ UTR) of the MUTYH gene. This variant results from a G to A substitution 3 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.