Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033327 | SCV001196634 | pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2022-02-22 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 9-10 of the CNTNAP2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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). A similar copy number variant has been observed in individual(s) with CNTNAP2-related disease (PMID: 27439707). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |