ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)

dbSNP: rs1567149946
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679946 SCV000807380 likely pathogenic Developmental and epileptic encephalopathy 94 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000679946 SCV001575741 pathogenic Developmental and epileptic encephalopathy 94 2022-03-19 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of CHD2-related conditions (PMID: 25326635, 30525188). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 560973). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CHD2 protein function. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 900 of the CHD2 protein (p.Arg900Gln).
GeneDx RCV001584549 SCV001811858 pathogenic not provided 2024-08-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30525188, 35982159, 28191889, 33004838, 35982160, 33057194)
GenomeConnect - Simons Searchlight RCV001265452 SCV001443584 pathogenic Complex neurodevelopmental disorder 2019-03-11 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-03-11 and interpreted as Pathogenic. Variant was initially reported on 2019-02-15 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
Solve-RD Consortium RCV000679946 SCV005091544 likely pathogenic Developmental and epileptic encephalopathy 94 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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