Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235420 | SCV001408104 | pathogenic | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu92*) 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 0.003%). This premature translational stop signal has been observed in individual(s) with WDR19-related disorders (PMID: 26275793, 30266093). ClinVar contains an entry for this variant (Variation ID: 961687). For these reasons, this variant has been classified as Pathogenic. |