ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) (rs71578980)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081340 SCV000113268 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000081340 SCV000169835 benign not specified 2014-05-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000301562 SCV000450675 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 RCV000361228 SCV000450676 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081340 SCV000711255 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly786Ser in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 0.6% (22/3698) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs71578980).
Invitae RCV000872722 SCV001014581 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174427 SCV001337565 benign Monogenic diabetes 2019-02-08 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.142 + 8 predictors; not using PP3/2 predictors), BS2 (20 cases and 19 controls in type2diabetesgenetics.org), BS1 (0.75% MAF in Africans in gnomAD)= benign

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