ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.530del (p.Pro177fs) (rs766538932)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687396 SCV000814960 pathogenic L-2-hydroxyglutaric aciduria 2018-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro177Hisfs*6) in the L2HGDH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766538932, ExAC 0.02%). This variant has been observed in several individuals affected with L-2-hydroxyglutaric Aciduria (PMID: 16134148). This variant is also known as c.529delC in the literature. 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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