Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rare Disease Group, |
RCV000754962 | SCV000788388 | pathogenic | Jeune thoracic dystrophy | 2018-05-01 | criteria provided, single submitter | research | |
Invitae | RCV003768018 | SCV004587682 | pathogenic | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-04-01 | 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: 558761). This premature translational stop signal has been observed in individual(s) with skeletal ciliopathy (PMID: 33875766). This variant is present in population databases (rs747165335, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Thr1290Cysfs*14) 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). |