ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.185G>A (p.Ser62Asn)

gnomAD frequency: 0.00001  dbSNP: rs886041165
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000296349 SCV000329255 uncertain significance not provided 2016-03-11 criteria provided, single submitter clinical testing The S62N variant in the CHD2 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The S62N variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S62N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across mammalian species; in silico is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S62N as a variant of unknown significance.
Revvity Omics, Revvity RCV003144187 SCV003831923 uncertain significance Developmental and epileptic encephalopathy 94 2022-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003144187 SCV005734718 uncertain significance Developmental and epileptic encephalopathy 94 2024-11-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 62 of the CHD2 protein (p.Ser62Asn). This variant is not present in population databases (gnomAD no frequency). 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: 279756). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CHD2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.