ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.634A>G (p.Met212Val)

gnomAD frequency: 0.00002  dbSNP: rs782754619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305856 SCV002599213 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated patients with deficiency (PS4_M, PP4). Decreased activity in red blood cells of hemizygotes (13-20%) (PS3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.988 (odds of pathogenicity 729.3, Prior_P 0.1).
Revvity Omics, Revvity RCV002305856 SCV003828417 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-03-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003464445 SCV004195411 likely pathogenic Malaria, susceptibility to 2022-12-22 criteria provided, single submitter clinical testing
GeneDx RCV004700722 SCV005201603 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing Also known as G6PD Sibari; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35313643, 8364584, 27391121, 34272389, 34551338, 26753754, 22293322, 8447319, 23006493)

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