ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.1537C>T (p.Arg513Ter)

dbSNP: rs1564421528
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708579 SCV000837703 pathogenic DeSanto-Shinawi syndrome due to WAC point mutation 2018-03-05 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269613 SCV001449718 pathogenic not provided 2019-03-28 criteria provided, single submitter clinical testing
GeneDx RCV001269613 SCV002762316 pathogenic not provided 2022-12-05 criteria provided, single submitter clinical testing Previously reported as p.Arg468* (Frisk et al., 2022); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35118825, 33726816)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001269613 SCV002034898 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001269613 SCV002035264 pathogenic not provided no assertion criteria provided clinical testing

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