ClinVar Miner

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

dbSNP: rs2139977488
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Total submissions: 2
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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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001728181 SCV004807709 pathogenic L-2-hydroxyglutaric aciduria 2024-03-29 criteria provided, single submitter clinical testing

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