Submissions for variant NM_020365.5(EIF2B3):c.706C>G (p.Gln236Glu)

dbSNP: rs1557668795

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586914	SCV005077086	uncertain significance	not specified	2024-04-22	criteria provided, single submitter	clinical testing	Variant summary: EIF2B3 c.706C>G (p.Gln236Glu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251454 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.706C>G has been reported in the literature in individuals affected with Leukoencephalopathy With Vanishing White Matter (Hyun_2019). These report(s) do not provide unequivocal conclusions about association of the variant with Leukoencephalopathy With Vanishing White Matter. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 31072091). ClinVar contains an entry for this variant (Variation ID: 617735). Based on the evidence outlined above, the variant was classified as uncertain significance.
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	RCV000754860	SCV000882593	uncertain significance	Vanishing white matter disease	2017-10-10	no assertion criteria provided	research