Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
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. |
Dunham Lab, |
RCV002305429 | SCV002599360 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in unrelated hemizygotes with deficiency and CNSHA (PS4_M, PP4). Decreased activity in red blood cells (1-11%) (PS3). Within dimer interface (PM1). Predicted to be pathogenic or deleterious by several in silico tools (PP3). Not found in gnomAD (PM2). Post_P 0.999 (odds of pathogenicity 6568, Prior_P 0.1). |
OMIM | RCV000011101 | SCV000031328 | other | G6PD TOMAH | 2013-04-18 | no assertion criteria provided | literature only |