ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070930 SCV001236210 pathogenic L-2-hydroxyglutaric aciduria 2019-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg277*) in the L2HGDH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752025180, ExAC 0.001%). This variant has been observed in an individual affected with L-2-hydroxyglutaric aciduria (PMID: 20052767). Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). For these reasons, this variant has been classified as Pathogenic.

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