Submissions for variant NM_025000.4(DCAF17):c.322-14C>T

gnomAD frequency: 0.20151  dbSNP: rs192861143

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000171450	SCV000221649	likely pathogenic	not provided		criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV000341904	SCV000419266	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.
Mendelics	RCV000341904	SCV001136087	benign	Woodhouse-Sakati syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000341904	SCV001730002	benign	Woodhouse-Sakati syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV000341904	SCV002503665	benign	Woodhouse-Sakati syndrome	2021-10-04	criteria provided, single submitter	clinical testing	Population allele frequency is 30% (rs192861143, 46,946/157,936 alleles, 5344 homozygotes in gnomAD v2.1). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV000341904	SCV002605312	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 rs192861143, yet.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000341904	SCV000734158	benign	Woodhouse-Sakati syndrome		no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356642	SCV001551866	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000171450	SCV001808377	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000171450	SCV001932888	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001356642	SCV001974849	benign	not specified		no assertion criteria provided	clinical testing