ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)

dbSNP: rs199474830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688144 SCV000815746 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2018-04-04 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 65 of the G6PD protein (p.Thr65Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with G6PD deficiency (PMID: 25189226). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Dunham Lab, University of Washington RCV000688144 SCV002599169 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency (PP4). Decreased activity in red blood cells of hemizygote and when expressed in E. coli (PS3). Not observed in gnomAD (PM2). Polyphen predicts as probably damaging, and further structural investigation indicates disruption of beta-alpha-beta motif and NADP binding site (PP3). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).

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