Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000011538 | SCV000996246 | pathogenic | Polyagglutinable erythrocyte syndrome | 2019-02-14 | criteria provided, single submitter | clinical testing | This nonsense variant found in exon 3 of 3 is predicted to result in loss of normal protein function. This variant has been previously reported as a somatic change in patients with Tn Syndrome (PMID: 16251947). Functional characterization of the p.Arg68Ter indicated that the mutant protein resulted in less than 10% of T-synthase activity relative to wild type (PMID: 16251947). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.202C>T, p.Arg68Ter variant is classified as Pathogenic. |
OMIM | RCV000011538 | SCV000031770 | pathogenic | Polyagglutinable erythrocyte syndrome | 2005-10-27 | no assertion criteria provided | literature only |