ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.166G>A (p.Gly56Ser)

dbSNP: rs1193487271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001876420 SCV002117748 uncertain significance L-2-hydroxyglutaric aciduria 2021-09-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 56 of the L2HGDH protein (p.Gly56Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. 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 C0"). 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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