ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.311G>A (p.Arg104His)

gnomAD frequency: 0.00081  dbSNP: rs181277621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000937220 SCV001082997 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-09-29 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV000937220 SCV002599156 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Found in heterozygote with inherited anemia who also has PIEZO1 mutation that is likely cause of anemia (BP5). SIFT predicts to be tolerated (0.62), PolyPhen2 benign (0.016) (BP4). Interpreted as benign by Invitae (BP6). Post_P 0.0122 (odds of pathogenicity 0.111, Prior_P 0.1).
PreventionGenetics, part of Exact Sciences RCV003913169 SCV004731777 likely benign G6PD-related disorder 2021-06-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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