ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.270dup (p.Cys91fs)

dbSNP: rs879253799
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine RCV000856564 SCV000914189 likely pathogenic Woodhouse-Sakati syndrome 2017-12-06 no assertion criteria provided clinical testing Sequencing analysis revealed a novel frameshift mutation NM_025000.4: c.270dup (p.Cys91Metfs*28) in exon 3 of DCAF17 in patient with hyper-hypogonadotropic hypogonadism, non-autoimmune insulinopenic diabetes mellitus and pituitary MRI indicated paramagnetic substance deposition in gland. These clinical findings and molecular results consistent with Woodhouse-Sakati Syndrome. Parents were found to be heterozygous carriers of this mutation. This variant was not reported in ExAC and gnomAD databases and was evaluated as pathogenic by in silico analysis such as MutationTaster.

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