ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.959del (p.Asp320fs)

dbSNP: rs2139977488
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
Breda Genetics srl RCV001728181 SCV001976619 pathogenic L-2-hydroxyglutaric aciduria 2021-06-24 criteria provided, single submitter clinical testing The variant c.959delA (p.Asp320Valfs*6) in the L2HGDH gene is reported as pathogenic in the Global Variome shared LOVD database v.3.0 (genomic variant: #0000412545). It creates a shift in the reading frame which is predicted to result in a premature stop codon 6 amino acids downstream, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant has not been reported in dbSNP, gnomAD, 1000 Genomes Project or ClinVar.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001728181 SCV004807709 pathogenic L-2-hydroxyglutaric aciduria 2024-03-29 criteria provided, single submitter clinical testing

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.