ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)

dbSNP: rs587783011
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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 2024-03-16 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144461 SCV000189595 pathogenic Senior-Loken syndrome 5 2014-09-18 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.