Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001797930 | SCV002041740 | likely pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2021-11-18 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 15 in the CNTNAP2 gene. A presumed nomenclature of c.(2255+1_2256-1)_(2383+1_2384-1)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 deletion change in the CNTNAP2 gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD, Structural Variants dataset). To our knowledge, no occurrence of exon 15 deletion in individuals affected with Pitt-Hopkins-Like Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Other CNTNAP2 exon deletions and loss-of-function variants have been reported in patients affected with Pitt-Hopkins-Like Syndrome 1 (e.g. PMID 19896112). Based on the evidence outlined above, the variant was classified as likely pathogenic. |