ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.597+5G>A

dbSNP: rs1590062007
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 RCV001024736 SCV001186807 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-02 criteria provided, single submitter clinical testing The c.597+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 4 in the SUFU gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the efficiency of the native donor site and will result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067678 SCV002363679 likely benign Gorlin syndrome; Medulloblastoma 2022-11-29 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.