ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.829dup (p.Thr277fs)

dbSNP: rs752919200
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
Counsyl RCV000666310 SCV000790581 pathogenic Nephropathic cystinosis 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV002530677 SCV001204510 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2021-09-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551290). This premature translational stop signal has been observed in individual(s) with clinical features of nephropathic cystinosis (PMID: 22664570, 24464559, 26565940, 28893421). 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 present in population databases (rs752919200, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Thr277Asnfs*19) in the CTNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039).
Fulgent Genetics, Fulgent Genetics RCV002245087 SCV002808685 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2022-02-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666310 SCV004212960 pathogenic Nephropathic cystinosis 2023-07-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835076 SCV002093237 pathogenic Cystinosis 2020-10-07 no assertion criteria provided 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.