ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) (rs41264699)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155410 SCV000205097 benign not specified 2013-08-30 criteria provided, single submitter clinical testing p.Lys193Gln in exon 5 of WFS1: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (30/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs41264699).
PreventionGenetics,PreventionGenetics RCV000155410 SCV000311336 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333986 SCV000450575 likely benign Autosomal dominant nonsyndromic deafness 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.
Illumina Clinical Services Laboratory,Illumina RCV000386661 SCV000450576 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433970 SCV000510960 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445506 SCV000537004 benign Monogenic diabetes 2018-11-21 criteria provided, single submitter research ACMG criteria: BS1 (1.3% in gnomAD S Asian, 1% gnomAD AJ), BS2 (74 cases and 62 control in T2DM and 5 homozygotes in gnomAD)=benign (REVEL 0.223 + PP3/5 predictors + BP4/4 predictors: conflicting evidence, not using)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000155410 SCV000605609 benign not specified 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000433970 SCV001005755 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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