ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+7270G>A

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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003325279 SCV004031174 uncertain significance Pheochromocytoma 2023-05-31 criteria provided, single submitter clinical testing The KIF1B c.3331G>A (p.Gly1111Ser) missense change has a maximum subpopulation frequency of 0.0028% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies.. To our knowledge, this variant has not been reported in individuals with pheochromocytoma or neuroblastoma. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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.