Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000169656 | SCV000221183 | pathogenic | Imerslund-Gräsbeck syndrome | 2014-12-15 | criteria provided, single submitter | clinical testing | The Glu2310CysfsX3 variant is predicted to alter the protein’s amino acid sequence beginning at position 2310 and lead to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria for pathogenicity. |
Invitae | RCV000169656 | SCV000829160 | pathogenic | Imerslund-Gräsbeck syndrome | 2018-08-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu2310Cysfs*3) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757649673, ExAC 0.03%). This variant has not been reported in the literature in individuals with CUBN-related disease. ClinVar contains an entry for this variant (Variation ID: 189227). Loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189). For these reasons, this variant has been classified as Pathogenic. |