ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.971-12G>A (rs375952052)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630474 SCV000751432 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2019-08-21 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the CTNS gene. It does not directly change the encoded amino acid sequence of the CTNS protein. This variant is present in population databases (rs375952052, ExAC 0.003%). This variant has been observed in individual(s) with cystinosis (PMID: 10556299, 22450360, 25326109). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.1310-12G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 526030). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 25326109). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000664494 SCV000788462 pathogenic Nephropathic cystinosis 2017-02-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000664494 SCV000889960 pathogenic Nephropathic cystinosis 2016-08-30 criteria provided, single submitter clinical testing

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.