ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs)

gnomAD frequency: 0.00001  dbSNP: rs771827120
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000559447 SCV000645108 pathogenic Cortical dysplasia-focal epilepsy syndrome 2024-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1161Glufs*3) 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 (rs771827120, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of CNTNAP2-related conditions (internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 468428). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586780 SCV005077078 pathogenic Autism, susceptibility to, 15 2024-04-22 criteria provided, single submitter clinical testing Variant summary: CNTNAP2 c.3480_3481delAG (p.Gly1161GlufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251442 control chromosomes. To our knowledge, no occurrence of c.3480_3481delAG in individuals affected with Autism, Susceptibility To, 15 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 468428). Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005034099 SCV005667278 pathogenic Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2024-01-04 criteria provided, single submitter clinical testing

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.