ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter)

gnomAD frequency: 0.00001  dbSNP: rs937345512
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704144 SCV000833082 pathogenic L-2-hydroxyglutaric aciduria 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg70*) in the L2HGDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with L-2-hydroxyglutaric aciduria (PMID: 16134148). ClinVar contains an entry for this variant (Variation ID: 580563). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001726311 SCV002526488 pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 16134148, 25525159, 31589614, 31130284)
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000704144 SCV003807221 pathogenic L-2-hydroxyglutaric aciduria 2023-01-06 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated
Mayo Clinic Laboratories, Mayo Clinic RCV001726311 SCV005414215 pathogenic not provided 2023-08-24 criteria provided, single submitter clinical testing PP4, PM2_moderate, PM3, PS4, PVS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726311 SCV001963392 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726311 SCV001972467 pathogenic not provided no assertion criteria provided clinical testing

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