Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857362 | SCV002239021 | pathogenic | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2021-09-17 | 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: 30704). This premature translational stop signal has been observed in individual(s) with Sensenbrenner syndrom (PMID: 22019273). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs387906981, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Arg1103*) 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). |
OMIM | RCV000023682 | SCV000044973 | pathogenic | Cranioectodermal dysplasia 4 | 2011-11-11 | no assertion criteria provided | literature only | |
Gene |
RCV000023682 | SCV000087014 | not provided | Cranioectodermal dysplasia 4 | no assertion provided | literature only |