ClinVar Miner

Submissions for variant NM_021224.6(ZNF462):c.7505A>G (p.Glu2502Gly)

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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 RCV004547203 SCV005042562 uncertain significance Weiss-Kruszka syndrome criteria provided, single submitter clinical testing The missense variant c.7505A>Gp.Glu2502Gly in ZNF462 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. The amino acid Glutamic acid at position 2502 is changed to a Glycine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damging by SIFT. The amino acid change p.Glu2502Gly in ZNF462 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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