ClinVar Miner

Submissions for variant NM_001034116.2(EIF2B4):c.551C>T (p.Pro184Leu)

dbSNP: rs1682025430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Unit, University Of Colombo RCV001256671 SCV001422505 likely pathogenic Vanishing white matter disease 2018-07-05 criteria provided, single submitter clinical testing The Pro205Leu variant in EIF2B4 gene has been reported in a Sri Lankan patient diagnosed with Leukoencephalopathy with Vanishing White Matter (PMID: 30073106). This mutation is not found in global population frequency databases or in our internal exome database. This variant is located in an area of the EIF2B4 gene that is highly conserved in different species of animals during evolution and it causes a non-conservative substitution of amino acids. According to ACMG criteria (2015), this variant can be classified as likely pathogenic.

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