ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1090G>A (p.Glu364Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004585203 SCV005073961 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency criteria provided, single submitter clinical testing The missense variant c.1090G>A(p.Glu364Lys) in G6PD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. The amino acid change p.Glu364Lys in G6PD is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Glu at position 364 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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