ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.496G>T (p.Glu166Ter)

dbSNP: rs2139976004
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002272891 SCV002557336 pathogenic Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2022-09-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (MIM#618088). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0204 - Variant is predicted to result in a truncated protein (premature termination codons in this gene are known to escape nonsense-mediated decay (PMID 30057031; PMID 30166628) with at least 1/3 of the protein sequence affected. (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other truncating variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (Decipher, PMID 30057031; PMID 30166628; PMID 31432588). (SP) 0803 - This variant has limited previous evidence of pathogenicity in an individual. PMID 30166628 report this variant as heterozygous and de novo in a 48 year old female diagnosed with developmental regression in childhood, cerebellar dysmetria and epilepsy. (SP) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Institute of Human Genetics, University of Leipzig Medical Center RCV002272891 SCV004242430 pathogenic Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2023-12-13 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PS4_MOD,PM2_SUP

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.