ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305724 SCV002599268 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency and no other symptoms (PP4). Decreased activity in red blood cells (50%) (PS3).Below expected carrier frequency in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).
Invitae RCV002305724 SCV004299708 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 378 of the G6PD protein (p.Gly378Ser). This variant is present in population databases (rs371489738, gnomAD 0.003%). This missense change has been observed in individual(s) with glucose-6-phosphate dehydrogenase deficiency (PMID: 22139979). This variant is also known as G6PD Montpellier. ClinVar contains an entry for this variant (Variation ID: 1722614). 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 expected to disrupt G6PD protein function. 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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