ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2136_2137delinsAA (p.Asn712_Glu713delinsLysLys)

dbSNP: rs1554447800
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521945 SCV000618181 uncertain significance not provided 2020-04-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Predicted to result in the in-frame deletion of two amino acid residues and insertion of two incorrect amino acids
Labcorp Genetics (formerly Invitae), Labcorp RCV002527592 SCV003268184 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-02 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 449783). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.2136_2137delinsAA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the CNTNAP2 protein (p.Asn712_Glu713delinsLysLys).

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.