ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) (rs137852314)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507435 SCV000603774 pathogenic not specified 2017-03-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000657881 SCV000331249 pathogenic not provided 2016-06-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763205 SCV000893825 pathogenic Susceptibility to malaria; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000657881 SCV000779644 pathogenic not provided 2018-05-15 criteria provided, single submitter clinical testing The G163S variant in the G6PD gene, also known as G6PD Mahidol, has been reported previously in association with G6PD deficiency and is a common variant in the Asian population (Vulliamy et al., 1989; Sarker et al., 2016). Being a common variant, the G163S variant is observed in 7/19,142 alleles (0.037%) from individuals of South Asian background, including 3 unrelated hemizygous individuals, in the ExAC dataset (Lek et al., 2016). The G163S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In vitro studies showed that G163S is less stable than wild type in both thermostability and urea-induced inactivation tests, and is also impaired in its folding properties (Huang et al., 2008). We interpret G163S as a pathogenic variant.
Invitae RCV000282708 SCV000768478 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 163 of the G6PD protein (p.Gly163Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs137852314, ExAC 0.04%). This variant is a common cause of glucose-6-phosphate dehydrogenase deficiency in South Asian populations (PMID: 2503817, 11499668, 11793482, 21989994, 23926329, 26226515, 27880809). This variant is also known as G6PD Mahidol in the literature. ClinVar contains an entry for this variant (Variation ID: 10367). Experimental studies have shown that this missense change reduces protein stability and enzymatic activity (PMID: 8118045, 17959407, 22165289). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011085 SCV000031312 other G6PD MAHIDOL 2017-05-24 no assertion criteria provided literature only

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