Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169050 | SCV000220210 | likely pathogenic | Nephropathic cystinosis | 2014-04-03 | criteria provided, single submitter | literature only | |
Baylor Genetics | RCV000169050 | SCV004212965 | pathogenic | Nephropathic cystinosis | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765053 | SCV004571005 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2023-04-06 | 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: 188741). This variant is also known as 292-293insA. This premature translational stop signal has been observed in individual(s) with cystinosis (PMID: 12204010). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr98Asnfs*27) 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). |