ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.751G>A (p.Asp251Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV004699755 SCV005203924 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-09-01 criteria provided, single submitter curation Reported in a hemizygote with normal activity in red blood cells (BS3_P), but predicted to have reduced function (PP3).
Labcorp Genetics (formerly Invitae), Labcorp RCV004699755 SCV005769311 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-09-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 251 of the G6PD protein (p.Asp251Asn). This variant is present in population databases (rs782324339, gnomAD 0.02%). 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 expected to disrupt G6PD protein function with a positive 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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