ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) (rs137852322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000011101 SCV000996081 pathogenic G6PD TOMAH 2017-11-09 criteria provided, single submitter clinical testing This variant has previously been described as pathogenic including in a patient with chronic non-spherocytic haemolytic anaemia (PMID: 2602358). Functional characterization of the variant demonstrated severely reduced function (PMID: 2602358). The variant is not present in public reference databases, and is thus presumed rare. The residue is conserved within vertebrates, and the substitution of an arginine residue is predicted to be damaging by in silico methods. There are additional reports of different amino acid substitutions at this residue also as pathogenic (PMID: 9410474, 9332310, 28028996). This variant was found in the hemizygous state, and was maternally inherited. Based on the available evidence, the variant is classified as pathogenic.
OMIM RCV000011101 SCV000031328 other G6PD TOMAH 2013-04-18 no assertion criteria provided literature only

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