ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) (rs398122998)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623164 SCV000742477 pathogenic Inborn genetic diseases 2017-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000077771 SCV000827295 pathogenic Epileptic encephalopathy, childhood-onset 2018-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1657*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with early onset epileptic encephalopathy (PMID: 24207121, Invitae). In one of these individuals, the variant was reported to be novo (PMID: 24207121). ClinVar contains an entry for this variant (Variation ID: 92095). Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000077771 SCV000109593 pathogenic Epileptic encephalopathy, childhood-onset 2013-11-07 no assertion criteria provided literature only
GeneReviews RCV000077771 SCV000257597 pathogenic Epileptic encephalopathy, childhood-onset 2015-09-10 no assertion criteria provided literature only

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