ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)

gnomAD frequency: 0.00005  dbSNP: rs5030870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347245 SCV000332812 uncertain significance not provided 2015-07-09 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002305477 SCV002599145 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes without G6PD deficiency (BS2) and the activity in red blood cells is within the normal range (BS3). Post_P 0.00032 (odds of pathogenicity 0.0029, Prior_P 0.1).
Labcorp Genetics (formerly Invitae), Labcorp RCV002305477 SCV003445871 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-09-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 113 of the G6PD protein (p.Asp113Asn). This variant is present in population databases (rs5030870, gnomAD 0.007%). 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: 281819). 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 asparagine 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.

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