Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187256 | SCV000240838 | uncertain significance | not provided | 2014-01-16 | criteria provided, single submitter | clinical testing | p.Trp166Arg (TGG>CGG): c.496 T>C in exon 4 of the CNTNAP2 gene (NM_014141.5). The Trp166Arg 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 non-conservative amino acid substitution of an uncharged, non-polar Tryptophan residue with a positively charged Arginine residue at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense mutations associated with epilepsy have not been reported in this region of the protein. Therefore, based on the currently available information, it is unclear whether Trp166Arg is a disease-causing mutation or a rare benign variant.The variant is found in INFANT-EPI panel(s). |