ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)

dbSNP: rs1603411214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000991011 SCV001142102 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-05-28 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV000991011 SCV002599396 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Introduces stop codon at residue 460 (PVS1). Not found in gnomAD (PM2). Reported as pathogenic by Mendelics (PP5). Post_P 0.997 (odds of pathogenicity 3152, Prior_P 0.1).

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