Submissions for variant NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)

gnomAD frequency: 0.00002  dbSNP: rs370918918

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000876619	SCV001019212	benign	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2024-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573886	SCV001471702	uncertain significance	not provided	2020-10-07	criteria provided, single submitter	clinical testing
Dunham Lab, University of Washington	RCV000876619	SCV002599304	likely pathogenic	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2022-08-12	criteria provided, single submitter	curation	Variant found in unrelated hemizygotes with deficiency (PS4_M, PP4). Decreased activity in red blood cells (53%) (PS3). SIFT and structural bioinformatics predictions suggest deleterious effect on protein function (PP3). Below expected carrier frequency in gnomAD (PM2). Reported as benign by Invitae (BP6). Post_P 0.988 (odds of pathogenicity 729.3, Prior_P 0.1).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573886	SCV001800395	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573886	SCV001965496	likely benign	not provided		no assertion criteria provided	clinical testing