ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.1271G>A (p.Gly424Glu)

dbSNP: rs1888055214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002051041 SCV002113432 uncertain significance L-2-hydroxyglutaric aciduria 2021-12-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 424 of the L2HGDH protein (p.Gly424Glu).

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