Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001925612 | SCV002180368 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 5 | 2022-10-03 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the PIGW gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PIGW 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 PIGW-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. |
| Invitae | RCV001943312 | SCV002242986 | pathogenic | not provided | 2021-12-12 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the HNF1B gene has been identified. Loss-of-function variants in HNF1B are known to be pathogenic (PMID: 9398836, 12148114, 15068978, 20378641). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with HNF1B-related disease (PMID: 20633866, 24905847, 31604004). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. |