ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) (rs78478128)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699943 SCV000828676 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 44 of the G6PD protein (p.Ala44Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant has been reported to be a common cause of the glucose-6-phosphate dehydrogenase in South Asia, although it has also been reported in other populations (PMID: 8533762, 15315792, 20621077, 22906047, 26829728, 27880809). ClinVar contains an entry for this variant (Variation ID: 10406). Experimental studies have shown that this missense change reduces G6PD enzymatic activity in vitro (PMID: 8533762). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000699943 SCV001142116 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000011149 SCV000031376 other G6PD ORISSA 2013-04-18 no assertion criteria provided literature only

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