ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)

dbSNP: rs797044912
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190741 SCV000244182 pathogenic Inborn genetic diseases 2013-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000657720 SCV000779469 pathogenic not provided 2019-04-11 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26795593, 27652284, 28074849, 25356970)
Invitae RCV000692792 SCV000820635 pathogenic Developmental and epileptic encephalopathy 94 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1679*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with childhood-onset epileptic encephalopathy (PMID: 26795593, 28074849). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 208725). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000692792 SCV001428917 pathogenic Developmental and epileptic encephalopathy 94 2017-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000657720 SCV004010405 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing CHD2: PVS1, PM1, PM2, PS4:Moderate
GenomeConnect, ClinGen RCV000692792 SCV001423400 not provided Developmental and epileptic encephalopathy 94 no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 08-28-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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