ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter)

dbSNP: rs761127171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797901 SCV000937487 pathogenic Developmental and epileptic encephalopathy 94 2022-08-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1690*) 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 present in population databases (rs761127171, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CHD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 644061). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003128726 SCV003805581 pathogenic not provided 2022-03-08 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); Has not been previously published as pathogenic or benign to our knowledge

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