ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter)

dbSNP: rs2054212444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036200 SCV001199551 pathogenic Developmental and epileptic encephalopathy 94 2019-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). 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). This sequence change creates a premature translational stop signal (p.Gln1309*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product.
Institute of Human Genetics, University of Leipzig Medical Center RCV001036200 SCV003921056 pathogenic Developmental and epileptic encephalopathy 94 2023-02-21 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2_MOD, PS4_SUP, PM2_SUP

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