ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2702C>T (p.Ala901Val)

dbSNP: rs2141843246
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 RCV001752045 SCV001986766 uncertain significance not provided 2020-10-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002539920 SCV003311934 uncertain significance Developmental and epileptic encephalopathy 94 2022-08-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CHD2-related conditions. 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. 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 not expected to disrupt CHD2 protein function. ClinVar contains an entry for this variant (Variation ID: 1304278). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 901 of the CHD2 protein (p.Ala901Val).
Ambry Genetics RCV002538770 SCV003557336 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.2702C>T (p.A901V) alteration is located in exon 21 (coding exon 20) of the CHD2 gene. This alteration results from a C to T substitution at nucleotide position 2702, causing the alanine (A) at amino acid position 901 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.