ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3734_3735TG[3] (p.Val1247fs) (rs753327806)

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
Invitae RCV000550841 SCV000652124 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2018-10-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the INF2 gene (p.Val1247Aspfs*89). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 3 amino acids and extend the INF2 protein by 88 amino acids. This variant is present in population databases (rs753327806, ExAC 0.04%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with INF2-related disease. ClinVar contains an entry for this variant (Variation ID: 472863). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in INF2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.