ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter)

dbSNP: rs1889521207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329380 SCV001520812 pathogenic L-2-hydroxyglutaric aciduria 2019-07-17 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001329380 SCV001585168 pathogenic L-2-hydroxyglutaric aciduria 2020-07-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). This variant has been observed in individual(s) with L-2-hydroxyglutaric aciduria (PMID: 20052767). This sequence change creates a premature translational stop signal (p.Tyr301*) in the L2HGDH gene. It is expected to result in an absent or disrupted protein product.

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