ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) (rs774419705)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000610593 SCV000711791 likely pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate 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.

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