ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1311= (p.Tyr437=)

dbSNP: rs2230037
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079394 SCV000111273 benign not specified 2015-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000011084 SCV000482068 likely benign G6PD deficiency 2018-03-06 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000079394 SCV000539215 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, silent variant not near splice site
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001719694 SCV001156782 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519331 SCV001728181 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001719694 SCV001949029 benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23389243, 27884173, 30045279, 30512159)
Dunham Lab, University of Washington RCV001519331 SCV002599415 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-09-01 criteria provided, single submitter curation Over 16% frequency in gnomAD (BA1). Reported in hemizygotes without G6PD deficiency (BS2). Numerous studies report G6PD activity; together the weighted average activity is over 60% of normal (BS3). Additional interpretation on ClinVar support benign (BP6).
Breakthrough Genomics, Breakthrough Genomics RCV001719694 SCV005208055 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000011084 SCV000031311 pathogenic G6PD deficiency 1969-02-01 no assertion criteria provided literature only

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