Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813348 | SCV000953706 | pathogenic | Pitt-Hopkins-like syndrome 2 | 2022-09-07 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 10-11 of the NRXN1 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 NRXN1 are known to be pathogenic (PMID: 19896112, 21964664, 23495017, 23533028, 25149956, 30031152). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. For these reasons, this variant has been classified as Pathogenic. |