ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter)

gnomAD frequency: 0.00001  dbSNP: rs1559264135
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Total submissions: 2
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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

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