ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.971-1G>C

dbSNP: rs2142982540
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
Congenital and Hereditary Diseases, Charles Nicolle Hospital RCV001375476 SCV001554457 likely pathogenic Nephropathic cystinosis 2021-03-01 no assertion criteria provided clinical testing DNA sequencing revealed novel homozygous splicing mutation NM_001031681: c.971-1G>C in 6 patients belonging to 4 families. All parents of these patients were consanguineous and were confirmed to be heterozygous carriers. The splicing NM_001031681: c.971-1G>C segregated according to a recessive model with full penetrance. NM_001031681: c.971-1G>C was not referenced in the NHLBI Exome Variant Server or in the ClinVar database. Analysis of NM_001031681: c.971-1G>C with Alamut, predicted change at acceptor site of intron 11, 1 bp downstream and the activation of a cryptic acceptor site at +5 bp. The predicted protein will be p.D324VfsX31.

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.