ClinVar Miner

Submissions for variant G6PD NARA (rs587776730)

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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 RCV001286821 SCV001473440 likely pathogenic none provided 2019-09-19 criteria provided, single submitter clinical testing The G6PD c.957_980del; p.Lys320_Thr327del variant (rs587776730), also known as G6PD Nara, is reported in the literature in an individual affected with G6PD deficiency (Hirono 1993). This variant deletes eight amino acids, leaving the rest of the protein in-frame. Functional analysis of hemolysate from an affected individual with this variant showed no detectable G6PD activity, and the variant protein was reported to be extremely thermolabile with rapid loss of residual enzyme activity (Hirono 1993). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. Based on available information, this variant is considered to be likely pathogenic. References: Hirono A et al. G6PD Nara: a new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion. Blood. 1993 Dec 1;82(11):3250-2.
Mayo Clinic Laboratories, Mayo Clinic RCV001509137 SCV001715684 likely pathogenic not provided 2020-12-29 criteria provided, single submitter clinical testing PM2, PM4, PP4, PS4_supporting
OMIM RCV000143789 SCV000188683 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1993-12-01 no assertion criteria provided literature only

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