ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer)

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
Clinical Genomics Laboratory, Washington University in St. Louis RCV003459004 SCV004177144 pathogenic Developmental and epileptic encephalopathy, 54 2023-07-26 criteria provided, single submitter clinical testing The HNRNPU c.2295_2298del (p.Tyr765fs) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant causes a frameshift by deleting four nucleotides, leading to a premature termination codon, which is predicted to lead to nonsense mediated decay. Additionally, other variants in this region that introduce a premature termination codon have been described in affected individuals and are considered pathogenic (Leduc MS et al., PMID: 28815871; Taylor J et al., PMID: 35138025). Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as pathogenic.

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.