ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)

gnomAD frequency: 0.00001  dbSNP: rs118204020
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000001674 SCV001934483 likely pathogenic L-2-hydroxyglutaric aciduria 2021-03-15 criteria provided, single submitter clinical testing This variant was identified as homozygous.
CeGaT Center for Human Genetics Tuebingen RCV002274874 SCV002563199 likely pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing L2HGDH: PM2, PM3, PP4:Moderate, PP1, PP3
MGZ Medical Genetics Center RCV000001674 SCV002579016 likely pathogenic L-2-hydroxyglutaric aciduria 2022-05-09 criteria provided, single submitter clinical testing
Invitae RCV000001674 SCV004297090 pathogenic L-2-hydroxyglutaric aciduria 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1607). This missense change has been observed in individual(s) with clinical features of L-2-hydroxyglutaric aciduria (PMID: 15385440, 16134148, 18415700; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs118204020, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 302 of the L2HGDH protein (p.Pro302Leu).
OMIM RCV000001674 SCV000021830 pathogenic L-2-hydroxyglutaric aciduria 2004-11-15 no assertion criteria provided literature only

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