ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1954G>A (p.Gly652Ser)

gnomAD frequency: 0.00008  dbSNP: rs144623130
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
Invitae RCV001062248 SCV001227033 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-10-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 652 of the CNTNAP2 protein (p.Gly652Ser). This variant is present in population databases (rs144623130, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 856728). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001585963 SCV001811802 uncertain significance not provided 2022-11-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV003918659 SCV004732934 uncertain significance CNTNAP2-related condition 2024-01-08 criteria provided, single submitter clinical testing The CNTNAP2 c.1954G>A variant is predicted to result in the amino acid substitution p.Gly652Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.031% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.