ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.751C>T (p.Arg251Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003062631 SCV003442333 pathogenic L-2-hydroxyglutaric aciduria 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg251*) 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 (rs547796370, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with L-2-hydroxyglutaric aciduria (PMID: 18415700). ClinVar contains an entry for this variant (Variation ID: 2137582). For these reasons, this variant has been classified as Pathogenic.

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