ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.482G>T (p.Gly161Val) (rs137852341)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821638 SCV000962407 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 131 of the G6PD protein (p.Gly131Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs137852341, ExAC 0.06%). This variant has been observed in many individuals affected with G6PD deficiency and is one of the most common disease associated G6PD variants in several South East Asian populations (PMID: 11400791, 25775246, 11243133). This variant is also known as the Quing Yuan or Chinese-4 variant in the literature. ClinVar contains an entry for this variant (Variation ID: 10404). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000821638 SCV001142112 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000011147 SCV000031374 other G6PD QUING YUAN 2013-04-18 no assertion criteria provided literature only

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