Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003123481 | SCV003801077 | pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2023-01-16 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 4 in the CNTNAP2 gene. A presumed nomenclature of c.(402+1_403-1)_(550+1_551-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the CNTNAP2 gene, a known mechanism of disease. The variant was absent in 21274 control chromosomes in the gnomAD database (structural variants data set). Exon 4 deletion has been reported in the literature in individuals affected Pitt Hopkins-like syndrome 1 (Mittal_2021), epilepsy (McKnight_2021) and classic cortical dysplasia-focal epilepsy syndrome (Strauss_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |