ClinVar Miner

Submissions for variant NM_207346.3(TSEN54):c.1335del (p.Leu446fs)

dbSNP: rs587784476
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
Genetic Services Laboratory,University of Chicago RCV000147773 SCV000195244 pathogenic Olivopontocerebellar hypoplasia 2013-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193387 SCV001362172 likely pathogenic Pontoneocerebellar hypoplasia 2019-11-08 criteria provided, single submitter clinical testing Variant summary: TSEN54 c.1335delC (p.Leu446TrpfsX55) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251468 control chromosomes. To our knowledge, no occurrence of c.1335delC in individuals affected with TSEN54-Related Pontocerebellar Hypoplasia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Although one laboratory has submitted a clinical-significance assessment for this variant as pathogenic to ClinVar before 2014 without evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as likely 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.