ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.794G>A (p.Arg265His)

dbSNP: rs748747271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069659 SCV001234845 uncertain significance L-2-hydroxyglutaric aciduria 2021-12-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 862846). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 265 of the L2HGDH protein (p.Arg265His).

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