ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.284G>A (p.Gly95Asp)

gnomAD frequency: 0.00001  dbSNP: rs1227367592
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001866506 SCV002123617 uncertain significance L-2-hydroxyglutaric aciduria 2022-03-08 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 95 of the L2HGDH protein (p.Gly95Asp).

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