ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg)

dbSNP: rs137852348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305436 SCV002599300 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency (PP4). Decreased actvity in red blood cells (30%) (PS3). Not found in gnomAD (PM2). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).
Labcorp Genetics (formerly Invitae), Labcorp RCV002305436 SCV005840590 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 481 of the G6PD protein (p.Pro481Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with glucose-6-phosphate dehydrogenase deficiency (PMID: 16143877). This variant is also known as G6PD Split. ClinVar contains an entry for this variant (Variation ID: 10415). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt G6PD protein function with a positive predictive value of 95%. 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.
OMIM RCV000011159 SCV000031386 other G6PD SPLIT 2016-07-28 no assertion criteria provided literature only

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