ClinVar Miner

Submissions for variant NM_021224.6(ZNF462):c.3047G>A (p.Cys1016Tyr)

dbSNP: rs1422121486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002277751 SCV002564631 uncertain significance Weiss-Kruszka syndrome 2022-01-08 criteria provided, single submitter clinical testing A heterozygous missense variation in exon3 of ZNF462 gene result in the amino acid substitution of tyrosine for cysteine at codon 1016 was detected. The p.Cys1016Tyr variants has not been reported in the 1000 genomes and gnomAD database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species.

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