Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698044 | SCV000826685 | pathogenic | Imerslund-Gräsbeck syndrome | 2018-02-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1487*) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs145661597, ExAC 0.01%). This variant has not been reported in the literature in individuals with CUBN-related disease. Loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189). For these reasons, this variant has been classified as Pathogenic. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000698044 | SCV001192691 | pathogenic | Imerslund-Gräsbeck syndrome | 2019-03-26 | no assertion criteria provided | clinical testing |