ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) (rs398123000)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000260224 SCV000329941 pathogenic not provided 2018-08-30 criteria provided, single submitter clinical testing The R466X pathogenic variant in the CHD2 gene has been reported previously as a heterozygous de novo pathogenic variant in a male child with mild intellectual disability, seizures, autism spectrum disorder, attention deficit hyperactivity disorder, and mild ataxia (Suls et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R466X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R466X as a pathogenic variant.
GeneReviews RCV000077773 SCV000257577 pathogenic Epileptic encephalopathy, childhood-onset 2015-09-10 no assertion criteria provided literature only
Invitae RCV000077773 SCV000962902 pathogenic Epileptic encephalopathy, childhood-onset 2018-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg466*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with epileptic encephalopathy (PMID: 24207121). ClinVar contains an entry for this variant (Variation ID: 92097). Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000077773 SCV000109595 pathogenic Epileptic encephalopathy, childhood-onset 2013-11-07 no assertion criteria provided literature only

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