Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610593 | SCV000711791 | likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency | 2016-03-28 | criteria provided, single submitter | clinical testing | The p.Arg457X variant in GPI has not been previously reported in individuals wit h glucosephosphate isomerase deficiency and was absent from large population stu dies. This nonsense variant leads to a premature termination codon at position 4 57 which is predicted to lead to a truncated or absent protein. Homozygous or co mpound heterozygous mutation in the GPI gene has been shown to cause non-spheroc ytic hemolytic anemia. In summary, although additional studies are required to f ully establish its clinical significance, the p.Arg457X variant is likely pathog enic. |
Revvity Omics, |
RCV000610593 | SCV002024901 | pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency | 2019-09-23 | criteria provided, single submitter | clinical testing |