ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn)

dbSNP: rs1554660095
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675041 SCV000800471 uncertain significance GNE myopathy 2018-06-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526010 SCV005040204 uncertain significance not specified 2024-03-05 criteria provided, single submitter clinical testing Variant summary: GNE c.1132_1135delinsA (p.Leu378_His379delinsAsn) results in an in-frame deletion-insertion that is predicted to delete two and insert one amino acids from the protein and also cause changes in two amino acids. The variant was absent in 251446 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1132_1135delinsA has been reported in the literature in individuals affected with Inclusion Body Myopathy 2 (Fisher_2006). These report(s) do not provide unequivocal conclusions about association of the variant with Inclusion Body Myopathy 2. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 19078806). ClinVar contains an entry for this variant (Variation ID: 558730). Based on the evidence outlined above, the variant was classified as 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.