Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001386933 | SCV001587334 | pathogenic | Wilson disease | 2020-10-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 1 of the ATP7B 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 1 of the ATP7B gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATP7B-related conditions. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV001871995 | SCV002229281 | pathogenic | ALG11-congenital disorder of glycosylation | 2021-04-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Congenital disorder of glycosylation type 1 (PMID: 30676690). A gross deletion of the genomic region encompassing the full coding sequence of the ALG11 gene has been identified. Loss-of-function variants in ALG11 are known to be pathogenic (PMID: 30676690). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. |