ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) (rs1805069)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038643 SCV000062321 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gly576Ser in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 1.9% (72/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs1805069).
Genetic Services Laboratory, University of Chicago RCV000038643 SCV000153519 benign not specified 2013-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000038643 SCV000169824 benign not specified 2013-10-04 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000038643 SCV000332677 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307804 SCV000450632 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV000362526 SCV000450633 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445534 SCV000537013 benign Monogenic diabetes 2019-02-08 criteria provided, single submitter research ACMG criteria: BA1 (6.7% in gnomAD SA, 2.3% in gnomAD African), BS2 (62 homozygotes in gnomAD)=Benign (REVEL 0.534 + precictor evidence not consistent, not using)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283204 SCV000605610 benign none provided 2020-05-28 criteria provided, single submitter clinical testing
Invitae RCV000755448 SCV001012441 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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