ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3830G>C (p.Gly1277Ala)

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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 RCV002820442 SCV003205516 pathogenic Developmental and epileptic encephalopathy 94 2023-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 2002481). This missense change 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 (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1277 of the CHD2 protein (p.Gly1277Ala).
GeneDx RCV004763465 SCV005373156 uncertain significance not provided 2023-08-03 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; Has not been previously published as pathogenic or benign to our knowledge

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