ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059211 SCV001223828 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-11-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 135 of the G6PD protein (p.Asn135Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine. This variant is present in population databases (rs782322505, ExAC no frequency). This variant has been observed in individual(s) with glucose-6-phosphate dehydrogenase deficiency (PMID: 22906837, 27519946). This variant is also known as G6PD Cairo in the literature. 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 C0"). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091837 SCV001248071 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing

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