ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)

gnomAD frequency: 0.32719  dbSNP: rs843358
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080353 SCV000112249 benign not specified 2013-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080353 SCV000309867 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313724 SCV000442325 benign Vanishing white matter disease 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000711607 SCV000841988 benign not provided 2018-01-17 criteria provided, single submitter clinical testing
Invitae RCV000711607 SCV001718735 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000313724 SCV001738573 benign Vanishing white matter disease 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000711607 SCV001935354 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080353 SCV000151092 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000313724 SCV001460708 benign Vanishing white matter disease 2020-09-16 no assertion criteria provided clinical testing

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