ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1022del (p.Pro341fs)

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 RCV003310405 SCV004001038 pathogenic Hereditary cancer-predisposing syndrome 2023-05-11 criteria provided, single submitter clinical testing The c.1022delC pathogenic mutation, located in coding exon 8 of the SUFU gene, results from a deletion of one nucleotide at nucleotide position 1022, causing a translational frameshift with a predicted alternate stop codon (p.P341Rfs*20). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777135 SCV004584345 pathogenic Gorlin syndrome; Medulloblastoma 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro341Argfs*20) in the SUFU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219, 33024317). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. ClinVar contains an entry for this variant (Variation ID: 2562345). For these reasons, this variant has been classified as Pathogenic.

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.