Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001379695 | SCV001577541 | likely pathogenic | Nephronophthisis | 2020-07-08 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the IQCB1 protein. Other variant(s) that disrupt this region (Gln520*, p.Gln512*, p.Gln513*) have been observed in individuals with IQCB1-related conditions (PMID: 20881296, 26766544). This suggests that this may be a clinically significant region of the protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with QCB1-related conditions (PMID: 25445212, 27491411). This variant is also known as c.1523_1524insGA in the literature. ClinVar contains an entry for this variant (Variation ID: 156379). This variant is present in population databases (rs587783011, ExAC 0.01%). This sequence change results in a premature translational stop signal in the IQCB1 gene (p.Ala509Lysfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acids of the IQCB1 protein. |
| Baylor Genetics | RCV000144461 | SCV004197979 | pathogenic | Senior-Loken syndrome 5 | 2023-05-24 | criteria provided, single submitter | clinical testing | |
| Molecular Diagnostics Laboratory, |
RCV000144461 | SCV000189595 | pathogenic | Senior-Loken syndrome 5 | 2014-09-18 | no assertion criteria provided | clinical testing |