ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter)

dbSNP: rs1215967523
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics, University of Kinshasa RCV001292575 SCV001519680 pathogenic Intellectual developmental disorder, autosomal dominant 64 2021-03-19 criteria provided, single submitter clinical testing This variant was classified as Pathogenic following the ACMG guidelines considering that the following criteria were met : PVS1 (Null variant (nonsense in ZNF292, for which loss-of-function is a known mechanism of disease); PS1 (Same amino acid change as a previously established pathogenic variant regardless of nucleotide change. See PMID: 31723249); PM2 (GnomAD and exomes allele count = 1 is less than 5); PP5 (previous submission in ClinVar classifies this variant as Likely Pathogenic).
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001292575 SCV005395896 uncertain significance Intellectual developmental disorder, autosomal dominant 64 2023-10-18 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001261696 SCV001439005 likely pathogenic Neurodevelopmental disorder no assertion criteria provided research
OMIM RCV001292575 SCV001481147 pathogenic Intellectual developmental disorder, autosomal dominant 64 2021-02-18 no assertion criteria provided literature only

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