ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala)

dbSNP: rs2148328852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509136 SCV001715683 likely pathogenic not provided 2019-05-09 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP4
Dunham Lab, University of Washington RCV002305609 SCV002599369 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in two hemizygous brothers with deficiency and CNSHA (PP1, PP4). Decreased activity in red blood cells (3-17%) (PS3). Within dimer interface (PM1). Predicted to be damaging or deleterious by multiple computational algorithms (PP3). Not found in gnomAD (PM2). Post_P 0.997 (odds of pathogenicity 3155, Prior_P 0.1).

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