ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) (rs35218685)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038636 SCV000062314 benign not specified 2017-07-05 criteria provided, single submitter clinical testing p.Cys426Tyr in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it is has been identified in 5% (511/10150 Ashkenazi Jewish ch romosomes including 10 homozygotes by the genome Aggregation Database (gnomAD, h ttp://gnomad.broadinstitute.org; dbSNP rs35218685).
Genetic Services Laboratory, University of Chicago RCV000038636 SCV000153518 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000038636 SCV000169818 benign not specified 2014-04-24 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756927 SCV000884914 benign not provided 2017-07-11 criteria provided, single submitter clinical testing
Invitae RCV000756927 SCV001013011 benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157341 SCV001318903 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). 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174420 SCV001337558 likely benign Monogenic diabetes 2018-01-12 criteria provided, single submitter research ACMG criteria: PP3 (4 predictors), BP4 (5 predictors), BS2 (36 cases and 42 controls in type2diabetesgenetics.org), BP6 (GeneDx says benign and Partners and Chicago call likely benign)=likely benign

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