ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.655C>G (p.Gln219Glu)

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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 RCV002510617 SCV002820101 uncertain significance Vanishing white matter disease criteria provided, single submitter clinical testing The missense variant p.Q219E in EIF2B5 (NM_003907.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Q219E variant is observed in 8/30,608 (0.0261%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes.The p.Q219E missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.655 in EIF2B5 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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