ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6634A>G (p.Lys2212Glu)

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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 RCV004547384 SCV005042936 uncertain significance Vici syndrome criteria provided, single submitter clinical testing The missense variant c.6634A>G p.Lys2212Glu in the EPG5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. The amino acid Lysine at position 2212 is changed to a Glutamic Acid changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Lys2212Glu in EPG5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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