ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)

dbSNP: rs1557229599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505954 SCV000603764 pathogenic not specified 2016-10-09 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002305498 SCV002599388 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency and CNSHA (PS4_M, PP4). Decreased activity in red blood cells of hemizygotes (4-21%) (PS3). Alters dimer interface (PM5). Not found in gnomAD (PM2). Reported as pathogenic by ARUP Laboratories (PP5). Post_P 0.999 (odds of pathogenicity 6568, Prior_P 0.1).
Revvity Omics, Revvity RCV002305498 SCV004238195 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-02-06 criteria provided, single submitter clinical testing

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