ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.574A>G (p.Ile192Val)

dbSNP: rs755942764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241507 SCV001414530 uncertain significance L-2-hydroxyglutaric aciduria 2020-02-21 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with L2HGDH-related conditions. This variant is present in population databases (rs755942764, ExAC 0.01%). This sequence change replaces isoleucine with valine at codon 192 of the L2HGDH protein (p.Ile192Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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