ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.696_697dup (p.Val233fs)

dbSNP: rs1555563982
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 RCV000666815 SCV000791172 likely pathogenic Nephropathic cystinosis 2017-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264562 SCV001442774 pathogenic Cystinosis 2020-10-30 criteria provided, single submitter clinical testing Variant summary: CTNS c.696_697dupCG (p.Val233AlafsX21) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250120 control chromosomes. c.696_697dupCG has been reported in the literature in individuals affected with Cystinosis and subsequently cited by others (example, Shotelersuk_1998, Kiehntopf_2002, Attard_1999, David_2018, Fleige_2020). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV002530698 SCV001581387 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val233Alafs*21) 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). For these reasons, this variant has been classified as Pathogenic. This variant is also known as 1033insCG. This premature translational stop signal has been observed in individual(s) with cystinosis (PMID: 9792862). This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV002245550 SCV002816248 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2021-12-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666815 SCV004212943 pathogenic Nephropathic cystinosis 2023-09-28 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.