Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001383366 | SCV001582484 | pathogenic | DiGeorge syndrome | 2022-10-24 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TBX1 gene has been identified. Loss-of-function variants in TBX1 are known to be pathogenic (PMID: 25860641, 29500247). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Contiguous gene deletions that include TBX1 have been observed in multiple individuals with congenital heart disease, DiGeorge syndrome, and pulmonary atresia (PMID: 25205790, 25516202, 24826987). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV001871994 | SCV002241933 | pathogenic | not provided | 2021-12-18 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TANGO2 gene has been identified. Loss-of-function variants in TANGO2 are known to be pathogenic (PMID: 26805781, 26805782). 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 TANGO2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 30245509). For these reasons, this variant has been classified as Pathogenic. |