Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411977 | SCV000486558 | pathogenic | Nephropathic cystinosis | 2016-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000703763 | SCV000832678 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis | 2019-09-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr216Asnfs*12) in the CTNS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with cystinosis (PMID: 9792862, 18178779, 19863563, 27858370). This variant is also known as c.985insA, p.Thr216Asn in the literature. ClinVar contains an entry for this variant (Variation ID: 371084). Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). For these reasons, this variant has been classified as Pathogenic. |