Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rare Disease Group, |
RCV000754959 | SCV000788385 | pathogenic | Cranioectodermal dysplasia | 2018-05-01 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV002499193 | SCV002811067 | likely pathogenic | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2021-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003106018 | SCV003780145 | pathogenic | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-01-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558759). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs771148519, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Tyr541*) 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). |