ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.117C>T (p.Leu39=)

dbSNP: rs747565910
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 RCV001297531 SCV001486555 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-03-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GNAO1-related conditions. This sequence change affects codon 39 of the GNAO1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GNAO1 protein. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.