ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp)

dbSNP: rs2148330566
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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 RCV001509138 SCV001715688 likely pathogenic not provided 2019-04-25 criteria provided, single submitter clinical testing PS3, PM1, PM2, PP4
Dunham Lab, University of Washington RCV002305610 SCV002599212 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant alters substrate binding site (PM1) and leads to decreased activity when expressed in S. cerevisiae (PS3_M). Below expected carrier frequency in gnomAD (PM2). Post_P 0.900 (odds of pathogenicity 81.2, Prior_P 0.1).

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