ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.389A>T (p.Lys130Met)

dbSNP: rs529638451
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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 RCV001899482 SCV002129770 uncertain significance D-2-hydroxyglutaric aciduria 2 2023-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IDH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 130 of the IDH2 protein (p.Lys130Met). ClinVar contains an entry for this variant (Variation ID: 1371025). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IDH2 protein function.

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