ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003623758 SCV004512067 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-09-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. This variant has not been reported in the literature in individuals affected with G6PD-related conditions. This variant is present in population databases (rs782372471, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 104 of the G6PD protein (p.Arg104Cys).

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