ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1937T>C (p.Leu646Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003153215 SCV003842114 uncertain significance Vanishing white matter disease 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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