ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3857T>C (p.Met1286Thr)

gnomAD frequency: 0.00003  dbSNP: rs150167891
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000734746 SCV000569620 uncertain significance not provided 2024-12-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000734746 SCV000862914 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000797247 SCV000936796 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1286 of the CNTNAP2 protein (p.Met1286Thr). This variant is present in population databases (rs150167891, gnomAD 0.008%). 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: 420686). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Genetic Services Laboratory, University of Chicago RCV001821398 SCV002067755 uncertain significance not specified 2018-12-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000734746 SCV005195716 uncertain significance not provided criteria provided, single submitter not provided

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.