ClinVar Miner

Submissions for variant NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)

dbSNP: rs1554434435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760472 SCV000890361 pathogenic not provided 2020-09-02 criteria provided, single submitter clinical testing 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29100089, 33796307)
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000516157 SCV001441613 pathogenic Intellectual disability, autosomal dominant 54 criteria provided, single submitter clinical testing ACMG classification: pathogenic (class 5: PVS1, PM2, PP5)
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000577898 SCV000583487 likely pathogenic Intellectual disability 2017-07-03 no assertion criteria provided research
OMIM RCV000516157 SCV000612156 pathogenic Intellectual disability, autosomal dominant 54 2017-12-08 no assertion criteria provided literature only

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