Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000413849 | SCV000492048 | likely pathogenic | not provided | 2016-11-22 | criteria provided, single submitter | clinical testing | The c.3G>T variant in the CUBN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. As this variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. The c.3G>T variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.3G>T variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
| Labcorp Genetics |
RCV001438020 | SCV001640887 | likely benign | Imerslund-Grasbeck syndrome | 2025-01-19 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV000413849 | SCV005410961 | uncertain significance | not provided | 2023-10-04 | criteria provided, single submitter | clinical testing | PVS1_supporting |
| Fulgent Genetics, |
RCV005044630 | SCV005674132 | uncertain significance | Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign | 2024-05-14 | criteria provided, single submitter | clinical testing |