ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.632A>T (p.Asp211Val) (rs5030872)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000507037 SCV000231600 pathogenic not provided 2012-11-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507037 SCV000603768 pathogenic not provided 2018-01-08 criteria provided, single submitter clinical testing
Mendelics RCV000991016 SCV001142110 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000991016 SCV001578431 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2020-09-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 181 of the G6PD protein (p.Asp181Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. The c.542A>T variant is the Malaga variant and it is present in population databases (rs5030872, ExAC 0.1%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). The c.542A>T (p.Asp181Val) variant and the c.376A>G (p.Asn126Asp) variant, when co-occurring in cis c.[376A>G;542A>T], is known as the G6PD Santa Maria haplotype. The c.542A>T variant alone has been observed in individuals affected with G6PD deficiency (PMID: 10571945, 8956035) and the Santa Maria haplotype has been observed in individuals with G6PD deficiency which manifested as hemolytic anemia (PMID: 1879833, 22963789, 12367584, 8956035, 22906837). ClinVar contains an entry for this variant (Variation ID: 10382, 37203). Experimental studies are not available for the c.542A>T (p.Asn181Val) variant alone but in vitro studies have shown that the G6PD Santa Maria haplotype abrogates enzyme activity and reduces affinity for the substrate (PMID: 26633385). For these reasons, the c.[376A>G;542A>T] haplotype has been classified as Pathogenic.
OMIM RCV000030892 SCV000031378 other G6PD MALAGA 2017-05-24 no assertion criteria provided literature only

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