ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1526G>A (p.Ser509Asn)

gnomAD frequency: 0.00001  dbSNP: rs794726999
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173855 SCV000225018 uncertain significance not provided 2014-06-23 criteria provided, single submitter clinical testing
Invitae RCV001852115 SCV002258054 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-04-24 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 509 of the CNTNAP2 protein (p.Ser509Asn). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 193704). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs794726999, gnomAD 0.006%).

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.