ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2164_2165dup (p.Ala723fs)

dbSNP: rs1680667014
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 RCV003103950 SCV001493720 uncertain significance Developmental and epileptic encephalopathy, 54 2024-02-17 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the HNRNPU gene (p.Ala723Glufs*112). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acid(s) of the HNRNPU protein and extend the protein by 8 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007286). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant results in an extension of the HNRNPU protein. Other variant(s) that result in a similarly extended protein product (p.Asn767Glufs*66) have been observed in individuals with HNRNPU-related disease (PMID: 28283832). This suggests that these extensions may be clinically significant. 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.