ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.649A>T (p.Ser217Cys)

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 RCV004519135 SCV005023274 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-15 criteria provided, single submitter clinical testing The p.S217C variant (also known as c.649A>T), located in coding exon 1 of the AXIN2 gene, results from an A to T substitution at nucleotide position 649. The serine at codon 217 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004573469 SCV005053132 uncertain significance Colorectal cancer 2024-03-24 criteria provided, single submitter 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.