ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.633G>C (p.Arg211Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340916 SCV004047763 uncertain significance Leukoencephalopathy with vanishing white matter 1 criteria provided, single submitter clinical testing The missense variant c.633G>C (p.Arg211Ser) in EIF2B5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This p.Arg211Ser variant has allele frequency of 0.00080% in the gnomAD and novel (not in any individuals) in 1000 genome database. This variant has not been reported to the ClinVar database. The amino acid Arg at position 211 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg211Ser in EIF2B5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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