ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.772+1133T>C

gnomAD frequency: 0.00001  dbSNP: rs1476850082
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689979 SCV000817652 likely pathogenic Pitt-Hopkins-like syndrome 2 2018-04-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NRXN1 are known to be pathogenic (PMID: 19896112, 21964664, 25149956). This variant has not been reported in the literature in individuals with NRXN1-related disease. This sequence change affects a donor splice site in intron 3 of the NRXN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
GeneDx RCV002051884 SCV002319052 uncertain significance not provided 2023-01-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.