ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr)

gnomAD frequency: 0.00005  dbSNP: rs782422580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001949746 SCV002203243 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 498 of the G6PD protein (p.Arg498Thr). This variant is present in population databases (rs782422580, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with G6PD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1426499). 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 G6PD 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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