Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000024286 | SCV004292648 | pathogenic | Woodhouse-Sakati syndrome | 2023-03-18 | 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: 31580). This premature translational stop signal has been observed in individual(s) with Woodhouse–Sakati syndrome (PMID: 20507343). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp129*) in the DCAF17 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DCAF17 are known to be pathogenic (PMID: 19026396, 20507343). |
OMIM | RCV000024286 | SCV000045577 | pathogenic | Woodhouse-Sakati syndrome | 2010-12-01 | no assertion criteria provided | literature only |