ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.692-3T>C

dbSNP: rs760130988
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 RCV002537455 SCV000960696 uncertain significance Developmental and epileptic encephalopathy, 54 2023-05-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 662379). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. This variant is present in population databases (rs760130988, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change falls in intron 1 of the HNRNPU gene. It does not directly change the encoded amino acid sequence of the HNRNPU protein. It affects a nucleotide within the consensus splice site.

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.