Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649764 | SCV000771596 | pathogenic | Pitt-Hopkins-like syndrome 2 | 2022-09-19 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4-6 of the NRXN1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with clinical features of NRXN1-related conditions (PMID: 23207424, 25661985, 27195815, 30031152; Invitae). The region of the NRXN1 gene that includes exon(s) 4 has been determined to be clinically significant (PMID: 21827697, 30031152; Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |