ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.386A>C (p.His129Pro)

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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 RCV005194774 SCV005830349 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-11-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 129 of the G6PD protein (p.His129Pro). This variant is present in population databases (rs782402416, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with G6PD-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 not expected to disrupt G6PD protein function with a negative predictive value of 95%. 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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