Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001384582 | SCV001584128 | pathogenic | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-02-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro375Serfs*3) in the WDR19 gene. It is expected to 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 is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071987). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV003325573 | SCV004031804 | pathogenic | not provided | 2023-08-26 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign in association with WDR19-related ciliopathy to our knowledge; This variant is associated with the following publications: (PMID: 31964843) |