ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1089G>A (p.Leu363=)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002691128 SCV003006744 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-07-26 criteria provided, single submitter clinical testing This sequence change affects codon 363 of the UNC93B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the UNC93B1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.