ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003070926 SCV003445536 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 185 of the G6PD protein (p.Asn185Ser). This variant is present in population databases (rs375741735, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with G6PD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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