ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) (rs137852343)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060931 SCV001225651 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-12-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 173 of the G6PD protein (p.Phe173Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs137852343, ExAC 0.02%). This variant has been observed in individual(s) with G6PD deficiency (PMID: 16329560, 30045279, 20582980). ClinVar contains an entry for this variant (Variation ID: 10407). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011150 SCV000031377 other G6PD NANKANG 2013-04-18 no assertion criteria provided literature only

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