ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)

dbSNP: rs1064794256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483052 SCV000568508 likely pathogenic not provided 2022-06-20 criteria provided, single submitter clinical testing Reported in association with EIF2B5-related leukoencephalopathy, however no evidence was provided to evaluate pathogenicity (Pronk et al., 2006; van der Lei et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); Published functional studies demonstrate a damaging effect as this variant leads to a significant decrease in protein function as compared to wild-type protein (Liu et al., 2011; De Almeida et al., 2013); This variant is associated with the following publications: (PMID: 23335982, 16632312, 22430157, 16807905, 21560189)
Fulgent Genetics, Fulgent Genetics RCV000763510 SCV000894309 pathogenic Vanishing white matter disease 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000763510 SCV001460711 likely pathogenic Vanishing white matter disease 2020-09-16 no assertion criteria provided clinical testing

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