Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705555 | SCV000834556 | pathogenic | Imerslund-Gräsbeck syndrome | 2018-06-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1810*) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs143944436, ExAC 0.03%). 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. |
Sing |
RCV000705555 | SCV000853127 | likely pathogenic | Imerslund-Gräsbeck syndrome | 2017-06-07 | no assertion criteria provided | curation | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000705555 | SCV000863860 | likely pathogenic | Imerslund-Gräsbeck syndrome | 2018-05-09 | no assertion criteria provided | clinical testing |