ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2390dup (p.Asn797fs)

dbSNP: rs2102984672
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 RCV002548193 SCV002303317 uncertain significance Developmental and epileptic encephalopathy, 54 2021-12-02 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the HNRNPU protein in which other variant(s) (p.Tyr824*) have been observed in individuals with HNRNPU-related conditions (PMID: 23708187). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the HNRNPU gene (p.Asn797Lysfs*56). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the HNRNPU protein and extend the protein by 26 additional amino acid residues.

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.