Submissions for variant NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)

gnomAD frequency: 0.00185  dbSNP: rs3821945

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155412	SCV000205102	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Asp866Asn in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 6.1% (5/82) of chromosomes from a pop ulation in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs38219 45).
Eurofins Ntd Llc (ga)	RCV000155412	SCV000232694	benign	not specified	2014-06-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376917	SCV000450705	likely benign	WFS1-Related Spectrum Disorders	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000284874	SCV000450706	likely benign	Autosomal dominant nonsyndromic hearing loss 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000155412	SCV000515279	benign	not specified	2015-03-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000664098	SCV000787550	likely benign	Monogenic diabetes	2017-06-01	criteria provided, single submitter	research	ACMG Criteria:PP3 (6 predictors), BP4 (5 predictors), BP6 (called benign by Partners, GeneDx and Emory)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000871130	SCV001012736	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464132	SCV002640379	uncertain significance	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. rs3821945 variant is also seen in patients with Diabetes Mellitus. However, the role of this particular variant is yet to be ascertained.
Genetics and Molecular Pathology, SA Pathology	RCV002464132	SCV002761379	likely benign	Wolfram syndrome 1	2019-09-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492587	SCV002799477	likely benign	Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome	2021-09-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000871130	SCV004185216	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	WFS1: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000871130	SCV004564837	likely benign	not provided	2023-11-24	criteria provided, single submitter	clinical testing