Submissions for variant NM_025000.4(DCAF17):c.150C>T (p.Val50=)

gnomAD frequency: 0.28531  dbSNP: rs6751956

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000280952	SCV000419262	benign	Woodhouse-Sakati syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000280952	SCV001730001	benign	Woodhouse-Sakati syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001579440	SCV001859693	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV000280952	SCV002605318	benign	Woodhouse-Sakati syndrome		criteria provided, single submitter	research	Mutations in DCAF17 have been associated with a rare syndrome called Woodhouse Sakati Syndrome, which can have diabetes mellitus as one of the presentations.However no sufficient evidence is found to ascertain the role of this particular variant rs6751956, yet.
Genetic Services Laboratory, University of Chicago	RCV000116869	SCV000150943	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000280952	SCV000734157	benign	Woodhouse-Sakati syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579440	SCV001807247	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116869	SCV001970252	benign	not specified		no assertion criteria provided	clinical testing