ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)

gnomAD frequency: 0.00277  dbSNP: rs55791823
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000311224 SCV000432444 likely benign Wolcott-Rallison dysplasia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000423642 SCV000510910 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga) RCV000423642 SCV000708003 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664080 SCV000787532 benign Monogenic diabetes 2019-01-18 criteria provided, single submitter research ACMG criteria: BA1 (0.5% in EurNF in gnomAD), BS2 (1 homozygotes in gnomAD)= benign (REVEL 0.384 + PP3/4 predictors) + BP4/5 predictors= conflicting evidence, not using)
Fulgent Genetics, Fulgent Genetics RCV000311224 SCV000895509 uncertain significance Wolcott-Rallison dysplasia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000423642 SCV001101240 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821019 SCV002070965 uncertain significance not specified 2019-11-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278521 SCV002566498 uncertain significance Connective tissue disorder 2020-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000423642 SCV004033750 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing EIF2AK3: BP4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000311224 SCV004564127 uncertain significance Wolcott-Rallison dysplasia 2023-09-08 criteria provided, single submitter clinical testing The EIF2AK3 c.1697A>T; p.Asp566Val variant (rs55791823), to our knowledge, is not reported in the medical literature in individuals with Wolcott-Rallison syndrome. This variant is reported in ClinVar (Variation ID: 337412) and is found in the general population with an overall allele frequency of 0.26% (730/282,242 alleles, including 1 homozygote) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.384). Due to limited information, the clinical significance of this variant is uncertain at this time.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.