ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) (rs137852331)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723531 SCV000231597 pathogenic not provided 2014-05-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508226 SCV000603766 likely pathogenic not specified 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000818047 SCV000958641 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 165 of the G6PD protein (p.Asn165Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs137852331, ExAC 0.1%). This variant has been observed in individuals affected with glucose-6-phosphate dehydrogenase deficiency (PMID: 7789945, 8118045, 18270558, 1562739). This variant is also known as "Taipei" or "Chinese-3" in the literature. ClinVar contains an entry for this variant (Variation ID: 10393). Experimental studies have shown that this missense change results in a G6PD protein with reduced enzymatic activity (PMID: 8118045). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011128 SCV000031355 other G6PD TAIWAN-HAKKA 2 2013-04-18 no assertion criteria provided literature only

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