ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe)

gnomAD frequency: 0.00001  dbSNP: rs782315572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV001801166 SCV002599202 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-09-01 criteria provided, single submitter curation Variant reported in three hemizygous brothers with G6PD deficiency (PP4), allele inherited from heterozygous mother (PP1). Also reported in unrelated individuals (PS4_M). Decreased activity reported in red blood cells of hemizygotes (PS3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.994 (odds of pathogenicity 1516.9, Prior_P 0.1).
Lifecell International Pvt. Ltd RCV001801166 SCV002044500 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency no assertion criteria provided clinical testing

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