Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003122750 | SCV003795599 | pathogenic | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-01-24 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 13-14 of the WDR19 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in WDR19 are known to be pathogenic (PMID: 22019273, 23559409, 23683095, 26275793, 27241786, 29068549). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. For these reasons, this variant has been classified as Pathogenic. |