ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)

gnomAD frequency: 0.00009  dbSNP: rs782065240
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509139 SCV001715689 uncertain significance not provided 2020-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564276 SCV003496546 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-06-10 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. This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 82 of the G6PD protein (p.Lys82Gln). This variant is present in population databases (rs782065240, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with G6PD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163786). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt G6PD protein function.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317506 SCV004020600 uncertain significance not specified 2023-06-02 criteria provided, single submitter clinical testing Variant summary: G6PD c.334A>C (p.Lys112Gln) results in a conservative amino acid change located in the Glucose-6-phosphate dehydrogenase, NAD-binding (IPR022674) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.2e-05 in 182966 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.334A>C in individuals affected with Glucose 6 Phosphate Dehydrogenase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and classified it as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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