ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)

dbSNP: rs782264331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003087172 SCV003486759 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-03-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 145 of the G6PD protein (p.Thr145Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with G6PD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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.
Dunham Lab, University of Washington RCV003087172 SCV005203922 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-09-01 criteria provided, single submitter curation Reported in a hemizygote with normal G6PD activity in red blood cells (BS3). Predicted to have normal function (BP4).

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