ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe)

dbSNP: rs2141861661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002246160 SCV002515873 likely pathogenic Developmental and epileptic encephalopathy 94 2022-05-20 criteria provided, single submitter clinical testing For the following reasons, we consider the CHD2 mutation found to be likely pathogenic: a comparison with the gnomAD browser did not provide evidence that this sequence change is a norm variant that can also be detected in non-affected individuals. The mutation is not currently listed in ClinVar or the HGMD database; the mutation is independently classified as deleterious by the majority (n=17 of 20) of prediction programs; the mutation arose a.e. de novo. The parents do not carry the mutation; the following ACMG criteria were used for classification: PM2, PM6, PP3

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