Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002561138 | SCV001375222 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2019-05-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln145*) in the CTNS gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). This variant has been observed an individual affected with nephropathic cystinosis (PMID: 30949462). This variant is not present in population databases (ExAC no frequency). |
Natera, |
RCV001828636 | SCV002093228 | pathogenic | Cystinosis | 2020-12-27 | no assertion criteria provided | clinical testing |