ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)

gnomAD frequency: 0.03373  dbSNP: rs2230036
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079392 SCV000111271 benign not specified 2015-04-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001540829 SCV000883922 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000011083 SCV001329047 likely benign G6PD deficiency 2018-01-13 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.
Invitae RCV001510602 SCV001717689 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001540829 SCV001758757 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV001510602 SCV002599149 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in over 150 individuals without G6PD deficiency (BS2) and the activity in red blood cells is within the normal range (BS3). Previously interpreted as bening (BP6). Post_P 0.00015 (odds of pathogenicity 0.0014, Prior_P 0.1).
CeGaT Center for Human Genetics Tuebingen RCV001540829 SCV004165985 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing G6PD: BP4
OMIM RCV000011083 SCV000031310 benign G6PD deficiency 2014-08-26 no assertion criteria provided literature only

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