ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)

gnomAD frequency: 0.00001  dbSNP: rs137852343
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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 RCV001060931 SCV001225651 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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. ClinVar contains an entry for this variant (Variation ID: 10407). This variant is also known as G6PD NanKang. This missense change has been observed in individual(s) with G6PD deficiency (PMID: 16329560, 20582980, 30045279). This variant is present in population databases (rs137852343, gnomAD 0.02%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 173 of the G6PD protein (p.Phe173Leu).
Dunham Lab, University of Washington RCV001060931 SCV002599333 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency, some with jaundice (PS4_M, PP4). Decreased activity in red blood cells (5-33%) (PS3). Below expected carrier frequency in gnomAD (PM2). Reported as pathogenic by Invitae (PP5). Post_P 0.994 (odds of pathogenicity 1517, Prior_P 0.1).
Baylor Genetics RCV003460458 SCV004195399 pathogenic Malaria, susceptibility to 2023-07-26 criteria provided, single submitter clinical testing
OMIM RCV000011150 SCV000031377 other G6PD NANKANG 2013-04-18 no assertion criteria provided literature only

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