ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.289dup (p.Ile97fs)

dbSNP: rs863224865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000196292 SCV000255356 pathogenic Woodhouse-Sakati syndrome 2014-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000196292 SCV004509165 pathogenic Woodhouse-Sakati syndrome 2023-01-28 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: 216916). This premature translational stop signal has been observed in individual(s) with autosomal recessive Woodhouse-Sakati syndrome (PMID: 25326637). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile97Asnfs*22) 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).

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