ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)

dbSNP: rs1557230573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris RCV000655924 SCV000777873 likely pathogenic Familial hemolytic anemia 2018-02-27 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002305526 SCV002599188 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 CNSHA (PP4). Decreased activity in red blood cells of hemizygote (4%) (PS3). Not observed in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).
Labcorp Genetics (formerly Invitae), Labcorp RCV002305526 SCV004521764 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 150 of the G6PD protein (p.Val150Ile). 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 and/or hemolytic anemia (PMID: 32641076, 33128437). This variant is also known as p.V180I, G6PD Baise. ClinVar contains an entry for this variant (Variation ID: 544826). 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 with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV004568475 SCV005058717 likely pathogenic Malaria, susceptibility to 2024-01-30 criteria provided, single submitter clinical testing

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