Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031664 | SCV001194970 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2021-08-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the PURA gene has been identified. Loss-of-function variants in PURA are known to be pathogenic (PMID: 29097605). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of PURA have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 23950017, 29619234). For these reasons, this variant has been classified as Pathogenic. |