ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) (rs864309547)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479724 SCV000568799 pathogenic not provided 2018-06-07 criteria provided, single submitter clinical testing The R1637X nonsense variant in the CHD2 gene has been reported previously in as a de novo change in an individual with early onset absence epilepsy and photosensitive epilepsy (Galizia et al., 2015). The R1637X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, R1637X is interpreted to be a pathogenic variant and its presence is consistent with the diagnosis in this patient
Invitae RCV000202631 SCV001236781 pathogenic Epileptic encephalopathy, childhood-onset 2019-03-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1637*) 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 affected with childhood-onset epileptic encephalopathy (PMID: 25783594). ClinVar contains an entry for this variant (Variation ID: 218398). Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000202631 SCV000257593 pathogenic Epileptic encephalopathy, childhood-onset 2015-09-10 no assertion criteria provided literature only

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