ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.530_533delinsATT (p.Pro177fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003129529 SCV003806187 likely pathogenic not provided 2022-08-18 criteria provided, single submitter clinical testing Frameshift 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: 24321868)
Invitae RCV003495317 SCV004297091 pathogenic L-2-hydroxyglutaric aciduria 2023-11-27 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. Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). This variant is present in population databases (rs766538932, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with L-2-hydroxyglutaric aciduria (PMID: 16134148). For these reasons, this variant has been classified as Pathogenic.

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