ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1268T>C (p.Val423Ala)

dbSNP: rs1560109172
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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 RCV000679975 SCV000807409 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 2-year-old male with difficulty moving, opisthotonus, epilepsy, leukodystrophy, possible vanishing white matter disease.

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