ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)

gnomAD frequency: 0.00390  dbSNP: rs35932623
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118865 SCV000153520 benign not specified 2013-03-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000118865 SCV000205099 benign not specified 2015-04-16 criteria provided, single submitter clinical testing p.Arg818Cys in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (129/15874) of South Asian chro mosomes including 1 homozygote by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs35932623).
GeneDx RCV000487646 SCV000252544 benign not provided 2019-02-01 criteria provided, single submitter clinical testing Incidentally identified in the diabetic father of a proband with Wolfram syndrome, though the proband had not inherited this variant (Smith et al., 2004).; Identified in the heterozygous state in another individual who was also homozygous for an in-frame insertion of three amino acids in the WFS1 gene (Smith et al., 2004).; Reported on both WFS1 alleles in an individual with Wolfram syndrome (Domenech et al., 2004); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27151922, 11161832, 11317350, 23595122, 12605098, 23429432, 15277431, 27013921, 11244483, 28432734, 15151504, 29511501, 30245029, 29563951, 31638168)
PreventionGenetics,PreventionGenetics RCV000118865 SCV000311327 likely benign not specified criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000118865 SCV000331434 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000336052 SCV000450687 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 RCV000403034 SCV000450688 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445373 SCV000537022 uncertain significance Monogenic diabetes 2015-07-31 criteria provided, single submitter research ACMG Criteria: PP3, PP5 (PMID:21446023), BS2, BP6
CeGaT Center for Human Genetics Tuebingen RCV000487646 SCV000575400 benign not provided 2022-03-01 criteria provided, single submitter clinical testing
Invitae RCV000487646 SCV001005999 benign not provided 2021-12-13 criteria provided, single submitter clinical testing
Mendelics RCV000987413 SCV001136703 benign Wolfram syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000487646 SCV001158286 likely benign not provided 2021-11-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000487646 SCV001918899 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000487646 SCV001963324 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000487646 SCV002035676 likely benign not provided no assertion criteria provided clinical testing

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