ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) (rs1805070)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152691 SCV000169831 benign not specified 2014-06-09 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152691 SCV000202065 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ile720Val in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 12.2% (11/90) of chromosomes from a p opulation in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs180 5070).
PreventionGenetics,PreventionGenetics RCV000152691 SCV000311321 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263623 SCV000450657 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152691 SCV000706605 benign not specified 2017-02-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756928 SCV000884915 benign not provided 2017-09-16 criteria provided, single submitter clinical testing
Invitae RCV000756928 SCV001005748 benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174426 SCV001337564 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BA1 (5.7% in gnomAD East Asian, 2.1% in EurF), BS2 (32 homozygotes in gnomAD)=benign (REVEL 0.433 + PP3/3 predictors + BP4/7 predictors= conflicting evidence, not using)

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