ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) (rs864309543)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000202630 SCV001200851 pathogenic Epileptic encephalopathy, childhood-onset 2019-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1412Glyfs*64) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs768249023, ExAC 0.02%). This variant has been observed in an individual affected with genetic generalized epilepsy (PMID: 25783594). ClinVar contains an entry for this variant (Variation ID: 218392). 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 RCV000202630 SCV000257587 pathogenic Epileptic encephalopathy, childhood-onset 2015-09-10 no assertion criteria provided literature only

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