ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter)

gnomAD frequency: 0.00001  dbSNP: rs752550849
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 RCV000187185 SCV000240765 likely pathogenic not provided 2021-09-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000541323 SCV000645078 pathogenic Cortical dysplasia-focal epilepsy syndrome 2024-07-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg483*) in the CNTNAP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 21827697, 25045150, 26843181, 27439707). This variant is present in population databases (rs752550849, gnomAD 0.009%). 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: 205244). For these reasons, this variant has been classified as Pathogenic.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002221212 SCV002498592 pathogenic See cases 2021-01-08 criteria provided, single submitter clinical testing This variant is predicted to create a premature termination codon at protein position 483 and result in a loss of protein function. This variant has not been reported in the medical literature but loss-of-function variants in CNTNAP2 are known to be pathogenic. This is a rare variant in large population studies (3 of 251,318 alleles; Genome Aggregation Database v2.1.1).

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.