ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys)

gnomAD frequency: 0.00007  dbSNP: rs367664952
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
Eurofins Ntd Llc (ga) RCV000656839 SCV000227691 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000656839 SCV000240814 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 27535533, 22872700, 18179895)
Fulgent Genetics, Fulgent Genetics RCV000515351 SCV000611463 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2022-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000801308 SCV000941080 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1119 of the CNTNAP2 protein (p.Arg1119Cys). This variant is present in population databases (rs367664952, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of CNTNAP2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 195509). 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 disruptive. 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.
Ambry Genetics RCV002321694 SCV002606170 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.3355C>T (p.R1119C) alteration is located in exon 20 (coding exon 20) of the CNTNAP2 gene. This alteration results from a C to T substitution at nucleotide position 3355, causing the arginine (R) at amino acid position 1119 to be replaced by a cysteine (C). 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.