Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV002471930 | SCV002767581 | pathogenic | Pitt-Hopkins-like syndrome | 2019-08-28 | criteria provided, single submitter | clinical testing | A heterozygous variant was identified, NM_014141.5(CNTNAP2):c.2569delT in exon 17 of 24 of the CNTNAP2 gene. This deletion is predicted to cause a frameshift from amino acid position 857 introducing a stop codon 11 residues downstream, NP_054860.1(CNTNAP2):p.(Ser857Profs*11), resulting in loss of normal protein function through nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database. It has not been previously observed in clinical cases. Other variants predicted to cause NMD have been reported as pathogenic in individuals with neurodevelopmental disorders (ClinVar, Saint-Martin, M., et al. (2018)). Based on information available at the time of curation, this variant has been classified as PATHOGENIC. |