ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1362G>A (p.Glu454=)

gnomAD frequency: 0.00001  dbSNP: rs771380823
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001502753 SCV001707590 likely benign Gorlin syndrome; Medulloblastoma 2021-08-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256811 SCV002527191 likely benign Hereditary cancer-predisposing syndrome 2021-08-06 criteria provided, single submitter curation
Ambry Genetics RCV002256811 SCV002696027 likely benign Hereditary cancer-predisposing syndrome 2021-01-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478863 SCV004221302 uncertain significance not provided 2023-09-05 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000026 (3/113770 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect SUFU mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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.