Submissions for variant NM_006005.3(WFS1):c.1367G>A (p.Arg456His)

gnomAD frequency: 0.04977  dbSNP: rs1801208

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038638	SCV000062316	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Arg456His in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 5.0% (352/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs1801208).
Eurofins Ntd Llc (ga)	RCV000038638	SCV000113261	benign	not specified	2013-10-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000038638	SCV000153523	benign	not specified	2013-11-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038638	SCV000311309	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363867	SCV000450616	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	RCV000269758	SCV000450617	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001523400	SCV000884907	benign	not provided	2023-11-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523400	SCV001733096	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001523400	SCV001893357	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26284228, 10679252, 23595122, 25497598)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464096	SCV002640382	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. rs1801208 variant is also seen in patients with Diabetes Mellitus. However, the role of this particular variant is yet to be ascertained.
Breakthrough Genomics, Breakthrough Genomics	RCV001523400	SCV005257164	likely benign	not provided		criteria provided, single submitter	not provided