ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)

dbSNP: rs2148332084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001420431 SCV001622563 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2021-04-28 criteria provided, single submitter research
Dunham Lab, University of Washington RCV001420431 SCV002599163 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); inherited from mother (PP1). Decreased activity in red blood cells of hemizygote (PS3). Not observed in gnomAD (PM2). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).
Labcorp Genetics (formerly Invitae), Labcorp RCV001420431 SCV004633034 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-05-25 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1098498). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 51 of the G6PD protein (p.Thr51Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with G6PD-related conditions (PMID: 33708821, 34272389). This variant is also known as c.242C>T p.Thr81Ile. 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. Experimental studies have shown that this missense change does not substantially affect G6PD function (PMID: 31489982, 33708821).

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