Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001381609 | SCV001580064 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2020-08-23 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CTNS gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole-gene deletions have not been reported in the literature in individuals with CTNS-related disease. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV001383990 | SCV001583325 | pathogenic | Spongy degeneration of central nervous system | 2020-08-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 4-6 of the ASPA gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This deletion has not been reported in the literature in individuals with ASPA-related disease. An in-frame deletion of exon 4 has been reported in individuals affected with Canavan disease, and has been determined to be pathogenic (PMID: 10909858, 7668285). This suggests that this exon is critical for ASPA protein function, and that other deletions that disrupt it may also be pathogenic. For these reasons, this variant has been classified as Pathogenic. |