ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.365G>C (p.Arg122Pro)

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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 RCV005185796 SCV005823248 uncertain significance D-2-hydroxyglutaric aciduria 2 2024-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 122 of the IDH2 protein (p.Arg122Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IDH2-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt IDH2 protein function with a positive predictive value of 80%. 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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