ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3949A>T (p.Asn1317Tyr)

dbSNP: rs796052387
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187240 SCV000240822 uncertain significance not provided 2014-01-24 criteria provided, single submitter clinical testing p.Asn1317Tyr (AAC>TAC): c.3949 A>T in exon 24 of the CNTNAP2 gene (NM_014141.5). The N1317Y missense change in the CNTNAP2 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one uncharged, polar amino acid for another. It alters a position in the cytoplasmic domain that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. The variant is found in INFANT-EPI panel(s).

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.