Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000707989 | SCV000837099 | pathogenic | Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I | 2020-01-03 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TRPS1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been observed in an individual with TRPS1-related disease (Invitae). Isolated whole-gene deletions of TRPS1 have not been reported in the literature, however, larger copy number events that include this gene have been reported (PMID: 25792522). Loss-of-function variants in TRPS1 are known to be pathogenic (PMID: 11112658). For these reasons, this variant has been classified as Pathogenic. |