ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1578_1594dup (p.Gln532fs)

gnomAD frequency: 0.00001  dbSNP: rs757464167
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219865 SCV001391827 pathogenic MHC class II deficiency 2023-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln532Argfs*40) in the RFX5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 85 amino acid(s) of the RFX5 protein. This variant is present in population databases (rs757464167, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RFX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 948575). This variant disrupts a region of the RFX5 protein in which other variant(s) (p.Ser571Glnfs*22) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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.