ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn)

dbSNP: rs1570013257
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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995689 SCV001150001 likely pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2019-02-21 criteria provided, single submitter clinical testing
GeneDx RCV001544716 SCV001763899 likely pathogenic not provided 2024-08-12 criteria provided, single submitter clinical testing In-frame deletion of two amino acids and insertion of one amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30401461)

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.