ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.3139C>T (p.Arg1047Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002469712 SCV002765522 likely pathogenic not provided 2022-12-08 criteria provided, single submitter clinical testing De novo variant in a patient with autism spectrum disorder tested via exome analysis (Iossifov et al., 2014); 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: 31332282, 31785789, 25363768)
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV004067578 SCV004849368 likely pathogenic Intellectual disability, autosomal recessive 65 criteria provided, single submitter clinical testing

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