ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile)

dbSNP: rs2070404146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001877861 SCV002141147 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 66 of the G6PD protein (p.Phe66Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of G6PD deficiency (PMID: 15727905, 24711023, 36212142). This variant is also known as G6PD Songklanagarind. ClinVar contains an entry for this variant (Variation ID: 1374503). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV001877861 SCV002599321 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency, and for one also in heterozygous mother (PS4_M, PP1, PP4). Decreased activity in red blood cells (6%) (PS3). Not found in gonmAD (PM2). Post_P 0.994 (odds of pathogenicity 1517, Prior_P 0.1).

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