Total submissions: 5
| 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, |
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. |
| Labcorp Genetics |
RCV002530698 | SCV001581387 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2023-08-07 | criteria provided, single submitter | clinical testing | 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). 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). This variant is also known as 1033insCG. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV005091932 | 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 | 2024-01-28 | criteria provided, single submitter | clinical testing |