Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000807914 | SCV000947994 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis | 2019-12-31 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-10 of the CTNS gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 10 of the CTNS gene. This is expected to result in an absent or disrupted protein product. A 57 kb deletion of exons 1-10 and including other genes has been reported to be common in individuals affected with cystinosis (PMID: 10625078, 21546516, 12204010, 28405942, 27734949, 9792862, 18186520). Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV003117598 | SCV003793884 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2022-11-02 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 1-10 of the CTNS gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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). A 57 kb deletion of exons 1-10 and including other genes has been reported to be common in individuals affected with cystinosis (PMID: 10625078, 21546516, 12204010, 28405942, 27734949, 9792862, 18186520). For these reasons, this variant has been classified as Pathogenic. |