ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.255G>A (p.Glu85=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002791909 SCV003201245 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-05-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with G6PD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 85 of the G6PD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the G6PD protein.

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