ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)

dbSNP: rs137852338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810842 SCV001477911 uncertain significance not provided 2020-06-04 criteria provided, single submitter clinical testing The G6PD c.108_110delCAT; p.Ile36del variant (rs137852338), also known as G6PD Sunderland or p.Ile66del on NM_000402.4, is reported in the literature in the hemizygous state in an individual affected with G6PD deficiency and chronic hemolytic anemia (MacDonald 1991). This variant deletes a single isoleucine residue leaving the rest of the protein in-frame. This variant is reported in ClinVar (Variation ID: 10400), and is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. However, given the lack of clinical and functional data, the significance of the p.Ile36del variant is uncertain at this time. References: MacDonald D et al. Deficiency in red blood cells. Nature. 1991;350(6314):115. References: MacDonald D et al. Deficiency in red blood cells. Nature. 1991;350(6314):115.
Dunham Lab, University of Washington RCV000011141 SCV002599161 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency and CNSHA (PP4). Decreased activity in red blood cells of hemizygote (PS3). Leads to deletion of one amino acid (PM4) and is not observed in gnomAD (PM2). Post_P 0.989 (odds of pathogenicity 729.3, Prior_P 0.1).
OMIM RCV000011140 SCV000031367 other G6PD SUNDERLAND 2013-10-24 no assertion criteria provided literature only

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