ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)

dbSNP: rs2071226510
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280781 SCV001468107 uncertain significance not provided 2020-10-22 criteria provided, single submitter clinical testing
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001280781 SCV001468529 pathogenic not provided 2020-12-03 criteria provided, single submitter research
3billion RCV001391188 SCV002012102 pathogenic Radio-Tartaglia syndrome 2021-10-02 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001391188 SCV004171125 likely pathogenic Radio-Tartaglia syndrome 2023-11-28 criteria provided, single submitter clinical testing
OMIM RCV001391188 SCV001593174 pathogenic Radio-Tartaglia syndrome 2021-05-10 no assertion criteria provided literature only

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.