ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)

dbSNP: rs137852346
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000011156 SCV002304367 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2021-03-20 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 269 of the G6PD protein (p.Cys269Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. 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. 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. This variant has been observed in individual(s) with G6PD deficiency (PMID: 10666231). ClinVar contains an entry for this variant (Variation ID: 10412). This variant is not present in population databases (ExAC no frequency).
Dunham Lab, University of Washington RCV000011156 SCV002599229 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). Mother and sister have normal G6PD activity and do not carry variant, so presumed de novo (PM6). Undetectable activity in red blood cells and granulocytes (PS3). Not found in gnomAD (PM2). Post_P 0.988 (odds of pathogenicity 729.3, Prior_P 0.1).
OMIM RCV000011155 SCV000031382 other G6PD AVEIRO 2000-02-15 no assertion criteria provided literature only
OMIM RCV000011156 SCV005374546 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2000-02-15 no assertion criteria provided literature only

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