Submissions for variant NM_006005.3(WFS1):c.997G>A (p.Val333Ile)

gnomAD frequency: 0.80149  dbSNP: rs1801212

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038668	SCV000062346	benign	not specified	2012-02-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000038668	SCV000113273	benign	not specified	2013-07-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000038668	SCV000153538	benign	not specified	2013-06-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038668	SCV000311340	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259675	SCV000450594	benign	WFS1-Related Spectrum Disorders	2018-03-06	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001523396	SCV001158747	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157248	SCV001318799	benign	Autosomal dominant nonsyndromic hearing loss 6	2018-03-06	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	RCV001523396	SCV001733092	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001523396	SCV001847466	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31118516, 25740874, 29632382, 27398621, 21726277, 24464100, 21517693)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464100	SCV002640387	likely benign	Wolfram syndrome 1		criteria provided, single submitter	research	Mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. rs1801212 variant is also seen in patients with Diabetes Mellitus. However, the role of this particular variant is yet to be ascertained.
Fulgent Genetics, Fulgent Genetics	RCV002496615	SCV002808548	benign	Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome	2022-03-30	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000038668	SCV001741744	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038668	SCV001952272	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038668	SCV001967344	benign	not specified		no assertion criteria provided	clinical testing