Submissions for variant NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)

gnomAD frequency: 0.02424  dbSNP: rs77214077

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079401	SCV000111280	benign	not specified	2012-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000646702	SCV000768481	benign	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2025-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001650905	SCV001157203	benign	not provided	2024-10-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169072	SCV001331718	likely benign	G6PD deficiency	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001650905	SCV001870135	benign	not provided	2019-03-09	criteria provided, single submitter	clinical testing
Dunham Lab, University of Washington	RCV000646702	SCV005203915	likely benign	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2024-09-01	criteria provided, single submitter	curation	Reported in >3 hemi- and homozygotes with normal G6PD activity in red blood cells (BS3). Additional interpretation on ClinVar support benign (BP6).
Breakthrough Genomics, Breakthrough Genomics	RCV001650905	SCV005208053	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003905048	SCV004719772	benign	G6PD-related disorder	2019-07-11	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).