ClinVar Miner

Submissions for variant NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) (rs1554434435)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760472 SCV000890361 pathogenic not provided 2018-12-21 criteria provided, single submitter clinical testing The R29X variant in the CAMK2B gene has been reported previously as de novo in an individual with mild intellectual disability, speech delay, and seizures; however, this individual also harbored variants in several other genes (Kury et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R29X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R29X as a pathogenic variant.
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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 2017-12-08 no assertion criteria provided literature only

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