ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2536C>G (p.Arg846Gly)

dbSNP: rs2141839141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002035474 SCV002234152 pathogenic Developmental and epileptic encephalopathy 94 2021-03-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg846 amino acid residue in CHD2. Other variant(s) that disrupt this residue have been observed in individuals with CHD2-related conditions (PMID: 31677157), which suggests that this may be a clinically significant amino acid residue. 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. This variant has been observed in individual(s) with clinical features of CHD2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 846 of the CHD2 protein (p.Arg846Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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