ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) (rs189731792)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724691 SCV000229121 uncertain significance not provided 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000724691 SCV000240831 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CNTNAP2 gene. The R114Q variant has been reported previously in a control individual and was not predicted to be deleterious; however, additional information regarding the zygosity of the variant or the phenotype of the individual was not provided (Bakkaloglu et al., 2008). The R114Q variant is observed in 38/11,540 (0.3%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R114Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000515189 SCV000611464 uncertain significance Autism 15; Pitt-Hopkins-like syndrome 1 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000724691 SCV000645106 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720389 SCV000851266 uncertain significance History of neurodevelopmental disorder 2016-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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.