Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003120774 | SCV003793883 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2022-10-28 | 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. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with CTNS-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV002014486 | SCV002233003 | uncertain significance | not provided | 2021-11-14 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TRPV3 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPV3 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with TRPV3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Labcorp Genetics |
RCV003120773 | SCV003790114 | pathogenic | Spongy degeneration of central nervous system | 2022-10-28 | flagged submission | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4-6 of the ASPA gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with ASPA-related conditions. The region of the ASPA gene that includes exon(s) 4 has been determined to be clinically significant (PMID: 7668285, 10909858). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |