ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.757-4G>T

dbSNP: rs1554852773
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000556003 SCV000623127 likely benign Gorlin syndrome; Medulloblastoma 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026578 SCV001188988 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-05 criteria provided, single submitter clinical testing The c.757-4G>T intronic variant results from a G to T substitution 4 nucleotides upstream from coding exon 7 in the SUFU gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. 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.