ClinVar Miner

Submissions for variant NM_021224.6(ZNF462):c.3111_3131delinsA (p.Phe1037fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785026 SCV005397455 pathogenic Weiss-Kruszka syndrome 2023-08-03 criteria provided, single submitter clinical testing This sequence variant is a deletion of 21 nucleotides and insertion of an A nucleotide in exon 3 of 12 of the ZNF462 gene which results in an early termition sigl 19 codons downstream of the frameshift introduced at Phe1037. This variant is predicted to generate a non-functiol allele through either the expression of a truncated protein or a loss of zinc finger protein 462 expression due to nonsense-mediated decay. This variant is absent from ClinVar and from the gnomAD population database (0/~282,000 alleles). Haploinsufficiency in ZNF462 is a known mechanism of disease. Based upon the evidence, we consider this variant to be pathogenic. ACMG Criteria: PM2, PS2, PVS1

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