ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.608G>A (p.Gly203Asp)

gnomAD frequency: 0.00001  dbSNP: rs766888561
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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 RCV003629932 SCV004549740 uncertain significance D-2-hydroxyglutaric aciduria 2 2022-11-01 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. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 203 of the IDH2 protein (p.Gly203Asp). This variant is present in population databases (rs766888561, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with IDH2-related conditions. 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.

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