ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.479G>A (p.Gly160Asp)

gnomAD frequency: 0.00006  dbSNP: rs761645660
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499683 SCV000595490 uncertain significance not specified 2016-03-25 criteria provided, single submitter clinical testing
Invitae RCV002524214 SCV002966900 uncertain significance L-2-hydroxyglutaric aciduria 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 160 of the L2HGDH protein (p.Gly160Asp). This variant is present in population databases (rs761645660, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 435696). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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