ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.193_195delATC (p.Ile66del) (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 RCV001289910 SCV001477911 uncertain significance none 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.
OMIM RCV000011140 SCV000031367 other G6PD SUNDERLAND 2013-10-24 no assertion criteria provided literature only
OMIM RCV000011141 SCV000031368 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1991-03-14 no assertion criteria provided literature only

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