ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.769+4A>G (rs886063926)

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
Illumina Clinical Services Laboratory,Illumina RCV000332020 SCV000480104 uncertain significance GNE myopathy 2017-04-27 criteria provided, single submitter clinical testing The GNE c.769+4A>G variant is a splice region variant that has been found in a compound heterozygous state in at least two individuals with GNE-related myopathy (Nishino et al. 2002; Fischer et al. 2013). Control data are unavailable for this variant, which is not found in the 1000 Genomes Project, Exome Sequencing Project or Exome Aggregation Consortium despite being located in a region of good sequencing coverage. The variant is thus presumed to be rare. Nishino et al. (2002) reported that the c.769+4A>G variant resulted in virtually complete skipping of exon 4 when cDNA was analyzed. The evidence for this variant is limited. The c.769+4A>G variant is thus classified as a variant of unknown significance but suspicious for pathogenicity for GNE-related myopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Clinical Services Laboratory,Illumina RCV000386564 SCV000480105 uncertain significance Sialuria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown 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.