Total submissions: 5
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, |
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, |
RCV001835076 | SCV002093237 | pathogenic | Cystinosis | 2020-10-07 | no assertion criteria provided | clinical testing |