ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter)

dbSNP: rs1085308000
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001072011 SCV001237353 pathogenic Developmental and epileptic encephalopathy 94 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser866*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CHD2-related conditions. This variant is not present in population databases (ExAC no frequency).

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