ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.6541C>T (p.Arg2181Ter)

dbSNP: rs377387515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442819 SCV004168078 pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 543 amino acids are lost, and other loss-of-function variants have been reported downstream at GeneDx; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31723249)
University of Washington Center for Mendelian Genomics, University of Washington RCV001261755 SCV001439071 likely pathogenic Neurodevelopmental disorder no assertion criteria provided research

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