ClinVar Miner

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

dbSNP: rs398122998
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Total submissions: 5
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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
Invitae RCV000077771 SCV000827295 pathogenic Developmental and epileptic encephalopathy 94 2022-02-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 92095). This premature translational stop signal has been observed in individual(s) with early onset epileptic encephalopathy (PMID: 24207121; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121).
CeGaT Center for Human Genetics Tuebingen RCV000995435 SCV001149606 likely pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000995435 SCV002820608 pathogenic not provided 2022-07-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24207121)
OMIM RCV000077771 SCV000109593 pathogenic Developmental and epileptic encephalopathy 94 2013-11-07 no assertion criteria provided literature only

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