ClinVar Miner

Submissions for variant NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)

gnomAD frequency: 0.00001  dbSNP: rs752636698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Laboratory Medicine,Yonsei University College of Medicine RCV000754838 SCV001364278 likely pathogenic Vanishing white matter disease 2020-06-04 criteria provided, single submitter clinical testing The c.89T>C variant has been identified in 0.0007953% by the Genome Aggregation Database (gnomAD, rs752636698). This variant has been reported in the compound heterozygous state with the other EIF2B3 variant (p.Leu168Pro) in an individual affected with Leukoencephalopathy with vanishing white matter (PMID:31072091).
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000754838 SCV000882594 uncertain significance Vanishing white matter disease 2017-10-10 no assertion criteria provided research

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