ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.1300C>G (p.His434Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003602441 SCV004448740 uncertain significance L-2-hydroxyglutaric aciduria 2023-04-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 434 of the L2HGDH protein (p.His434Asp). 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 L2HGDH protein function. 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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