ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)

gnomAD frequency: 0.00001  dbSNP: rs781906610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001312937 SCV001503412 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 325 of the G6PD protein (p.Asp325Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with glucose-6-phosphate dehydrogenase deficiency (PMID: 21507207). ClinVar contains an entry for this variant (Variation ID: 1014228). 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.
Dunham Lab, University of Washington RCV001312937 SCV002599253 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 activity in red blood cells (PS3). Modeling predicts disruption of function (PP3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).

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