ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.43C>T (p.Pro15Ser)

dbSNP: rs761921681
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 RCV002333729 SCV002628818 uncertain significance Hereditary cancer-predisposing syndrome 2025-03-04 criteria provided, single submitter clinical testing The p.P15S variant (also known as c.43C>T), located in coding exon 1 of the SUFU gene, results from a C to T substitution at nucleotide position 43. The proline at codon 15 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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.