ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter)

dbSNP: rs1555444603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070209 SCV001235426 pathogenic Developmental and epileptic encephalopathy 94 2020-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1261*) 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 in an individual affected with childhood epilepsy (PMID: 29720203). Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001664660 SCV001872657 pathogenic not provided 2022-07-26 criteria provided, single submitter clinical testing Reported previously in an individual with early onset epilepsy (Stanek et al., 2018); 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: 29720203, 31452935, 35774528)

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