ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2335G>A (p.Val779Met)

gnomAD frequency: 0.00672  dbSNP: rs141328044
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000038657 SCV000062335 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val779Met in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 2.5% (92/3730) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs141328044).
GeneDx RCV000038657 SCV000252500 benign not specified 2014-06-23 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.
Eurofins NTD LLC (GA) RCV000038657 SCV000341012 benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000404342 SCV000450671 likely benign WFS1-Related Spectrum Disorders 2017-04-28 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 RCV000300529 SCV000450672 likely benign Autosomal dominant nonsyndromic hearing loss 6 2017-04-28 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515097 SCV000610765 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664095 SCV000787547 benign Monogenic diabetes 2018-09-07 criteria provided, single submitter research ACMG criteria: BA1 (2.2% in gnomAD Africans), BS2 (72 cases and 71 controls in T2DM genes) (REVEL 0.696 + PP3/7 predictors + BP4/2 predictors= conflicting evidence, not using); Note: papers associate variant with LFHL (PMID: 11709537, 12955714)=benign
Invitae RCV000515097 SCV001012011 benign not provided 2021-12-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000515097 SCV002506004 benign not provided 2022-01-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038657 SCV001921627 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038657 SCV001969270 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000515097 SCV002036152 likely benign not provided no assertion criteria provided clinical testing

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