ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.628G>T (p.Glu210Ter)

dbSNP: rs1567133726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679947 SCV000807381 pathogenic Developmental and epileptic encephalopathy 94 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in a 4-year-old female with intellectual disability and epilepsy. It was inherited from a mother with intellectual disability, epilepsy, and bipolar disorder.
OMIM RCV000679947 SCV000864073 pathogenic Developmental and epileptic encephalopathy 94 2021-04-14 no assertion criteria provided literature only

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