ClinVar Miner

Submissions for variant NM_020365.5(EIF2B3):c.97A>G (p.Lys33Glu)

dbSNP: rs1557716669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679852 SCV000807198 uncertain significance Vanishing white matter disease 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory homozygous in a 4-month-old male with microcephaly & brain abnormalities: ependymal cysts & ventriculomegaly. A sibling with megalencephalic leukoencephalopathy was also homozygous.

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